Annotation Detail

Information
Associated Genes
GSTM1
Associated Variants
GSTM1 MUTATION
GSTM1 MUTATION
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
MTHFR p.Gly354Ala (p.G354A) ( ENST00000376585.6, ENST00000641820.1, ENST00000423400.7, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000641407.1 )
SLC19A1 p.Ala344Val (p.A344V) ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
GSTK1 p.Ala105Thr (p.A105T) ( ENST00000358406.10, ENST00000409500.7, ENST00000443571.6, ENST00000479303.1 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
MTHFR p.Gly354Ala (p.G354A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
SLC19A1 p.Ala344Val (p.A344V) ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
GSTK1 p.Ala105Thr (p.A105T) ( ENST00000358406.10, ENST00000409500.7, ENST00000443571.6, ENST00000479303.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing.
Pubmed
17180579
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0222582335105849
Year of publication
2007
Drugs