Variant ID: 3-197707219-G-C

NM_033029.3(LMLN):c.572G>C;(p.Gly191Ala)

This variant was identified in 5 publications




Publications:


N-acetyltransferase 2 (NAT2) gene polymorphism as a predisposing factor for phenytoin intoxication in tuberculous meningitis or tuberculoma patients having seizures - A pilot study.

The Indian Journal Of Medical Research
PS Adole, PS Kharbanda, S Sharma
Publication Date: 2016-05

Variant appearance in text: Msp: G191A
PubMed Link: 27488001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of arylamine N-acetyltransferase2 and risk of lung and colorectal cancer.

Genetics And Molecular Biology
A Mahasneh, A Jubaili, A El Bateiha, M Al-Ghazo, I Matalka, M Malkawi
Publication Date: 2012-12

Variant appearance in text: Msp: G191A
PubMed Link: 23271930
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations.

Bmc Genetics
J Talbot, LA Magno, CV Santana, SM Sousa, PR Melo, RX Correa, G Di Pietro, F Rios-Santos
Publication Date: 2010-10-05

Variant appearance in text: Msp: G191A
PubMed Link: 20923563
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: Msp: G191A
PubMed Link: 16097053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variable drug metabolism genes in Arab population.

The Pharmacogenomics Journal
R Bu, MI GutiƩrrez, M Al-Rasheed, A Belgaumi, K Bhatia
Publication Date: 2004

Variant appearance in text: Msp: G191A
PubMed Link: 15111988
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.572G>C p.Gly191Ala missense_variant 6/16 -
ENST00000332636.5 c.416G>C p.Gly139Ala missense_variant 6/16 -
ENST00000419117.1 c.356G>C p.Gly119Ala missense_variant 6/6 -
ENST00000420910.2 c.572G>C p.Gly191Ala missense_variant 6/17 -
ENST00000451139.2 n.1063G>C - non_coding_transcript_exon_variant 5/16 -
ENST00000473676.1 n.30G>C - non_coding_transcript_exon_variant 1/6 -
ENST00000482695.1 c.416G>C p.Gly139Ala missense_variant 6/17 -
ENST00000482837.1 n.152G>C - non_coding_transcript_exon_variant 2/2 -
NM_001136049.2 c.572G>C p.Gly191Ala missense_variant 6/17 -
NM_033029.3 c.572G>C p.Gly191Ala missense_variant 6/16 -
NR_026786.2 n.456G>C - non_coding_transcript_exon_variant 6/17 -
NR_026787.2 n.456G>C - non_coding_transcript_exon_variant 6/16 -