Variant ID: 2-234676965-G-C

NM_019077.2(UGT1A7):c.1175G>C;(p.Gly392Ala)

This variant was identified in 5 publications




Publications:


Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
DH Hovelson, Z Xue, M Zawistowski, MG Ehm, EC Harris, SL Stocker, AS Gross, IJ Jang, I Ieiri, JE Lee, LR Cardon, SL Chissoe, G Abecasis, MR Nelson
Publication Date: 2017-03

Variant appearance in text: rs367897068
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx
View BVdb publication page



Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.

Plos One
JM Aarts, GM Alink, F Scherjon, K MacDonald, AC Smith, H Nijveen, W Roebroeks
Publication Date: 2016

Variant appearance in text: UGT1A7: G392A
PubMed Link: 27655273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk.

International Journal Of Molecular Epidemiology And Genetics
M Eichholzer, S Rohrmann, A Barbir, S Hermann, B Teucher, R Kaaks, J Linseisen
Publication Date: 2012

Variant appearance in text: UGT1A7: G392A
PubMed Link: 22724046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects.

Birth Defects Research. Part C, Embryo Today : Reviews
M Shi, GL Wehby, JC Murray
Publication Date: 2008-03

Variant appearance in text: UGT1A7: G392A
PubMed Link: 18383123
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.

World Journal Of Gastroenterology
H Machida, K Tsukamoto, CY Wen, S Shikuwa, H Isomoto, Y Mizuta, F Takeshima, K Murase, N Matsumoto, I Murata, S Kohno, CY Wen
Publication Date: 2005-08-21

Variant appearance in text: UGT1A7: G392A
PubMed Link: 16097053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000305139.6 c.1181G>C p.Gly394Ala missense_variant 4/5 -
ENST00000305208.5 c.1184G>C p.Gly395Ala missense_variant 4/5 -
ENST00000344644.5 c.1175G>C p.Gly392Ala missense_variant 4/5 -
ENST00000354728.4 c.1175G>C p.Gly392Ala missense_variant 4/5 -
ENST00000360418.3 c.1184G>C p.Gly395Ala missense_variant 4/5 -
ENST00000373409.3 c.1187G>C p.Gly396Ala missense_variant 4/5 -
ENST00000373414.3 c.1187G>C p.Gly396Ala missense_variant 4/5 -
ENST00000373424.1 c.380G>C p.Gly127Ala missense_variant 5/6 -
ENST00000373426.3 c.1175G>C p.Gly392Ala missense_variant 4/5 -
ENST00000373445.1 c.1175G>C p.Gly392Ala missense_variant 4/5 -
ENST00000373450.4 c.1175G>C p.Gly392Ala missense_variant 4/5 -
ENST00000406651.1 c.380G>C p.Gly127Ala missense_variant 4/5 -
ENST00000446481.2 c.380G>C p.Gly127Ala missense_variant,NMD_transcript_variant 5/7 -
ENST00000450233.1 c.1187G>C p.Gly396Ala missense_variant,NMD_transcript_variant 4/6 -
ENST00000482026.1 c.1187G>C p.Gly396Ala missense_variant 4/5 -
ENST00000608381.1 c.1187G>C p.Gly396Ala missense_variant 4/5 -
ENST00000608383.1 c.1184G>C p.Gly395Ala missense_variant 4/5 -
ENST00000609637.1 c.1175G>C p.Gly392Ala missense_variant 4/5 -
ENST00000609767.1 c.1187G>C p.Gly396Ala missense_variant 4/5 -
NM_000463.3 c.1184G>C p.Gly395Ala missense_variant 4/5 -
NM_001072.4 c.1181G>C p.Gly394Ala missense_variant 4/5 -
NM_007120.3 c.1187G>C p.Gly396Ala missense_variant 4/5 -
NM_019075.2 c.1175G>C p.Gly392Ala missense_variant 4/5 -
NM_019076.4 c.1175G>C p.Gly392Ala missense_variant 4/5 -
NM_019077.2 c.1175G>C p.Gly392Ala missense_variant 4/5 -
NM_019078.1 c.1187G>C p.Gly396Ala missense_variant 4/5 -
NM_019093.2 c.1187G>C p.Gly396Ala missense_variant 4/5 -
NM_021027.3 c.1175G>C p.Gly392Ala missense_variant 4/5 -
NM_205862.2 c.380G>C p.Gly127Ala missense_variant 5/6 -