Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
rs1799794
(
ENST00000554913.5,
ENST00000348520.10,
ENST00000554974.5,
ENST00000352127.11,
ENST00000555055.6 )
BRCA1 p.Ser1634Cys (p.S1634C) ( ENST00000591849.5, ENST00000634433.2, ENST00000491747.6, ENST00000470026.6, ENST00000618469.2, ENST00000586385.5, ENST00000644379.2, ENST00000713676.1, ENST00000476777.6, ENST00000700182.1, ENST00000489037.2, ENST00000477152.6, ENST00000644555.2, ENST00000468300.5, ENST00000473961.6, ENST00000493795.5, ENST00000478531.6, ENST00000484087.6, ENST00000494123.6, ENST00000461574.2, ENST00000357654.9, ENST00000497488.2, ENST00000471181.7, ENST00000591534.5, ENST00000493919.6, ENST00000352993.7 )
BRCA1 p.Ser1634Gly (p.S1634G) ( ENST00000591534.5, ENST00000586385.5, ENST00000471181.7, ENST00000491747.6, ENST00000484087.6, ENST00000352993.7, ENST00000357654.9, ENST00000493919.6, ENST00000468300.5, ENST00000493795.5, ENST00000478531.6, ENST00000591849.5, ENST00000461574.2, ENST00000470026.6, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000489037.2, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
rs1799794 ( ENST00000348520.10, ENST00000352127.11, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
BRCA1 p.Ser1634Cys (p.S1634C) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
BRCA1 p.Ser1634Gly (p.S1634G) ( ENST00000468300.5, ENST00000471181.7, ENST00000352993.7, ENST00000357654.9, ENST00000491747.6, ENST00000461574.2, ENST00000470026.6, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- DisGeNET
- Description
- We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population.
- Pubmed
- 24933103
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00515739556952576
- Year of publication
- 2014
Drugs