Variant ID: 3-197748392-TG-AC

NM_033029.3(LMLN):c.1441_1442delinsAC;(p.Cys481Thr)

This variant was identified in 4 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: C481T
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: C481T
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: C481T
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: C481T
PubMed Link: 16097053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.1441_1442delinsAC p.Cys481Thr missense_variant 13/16 -
ENST00000332636.5 c.1285_1286delinsAC p.Cys429Thr missense_variant 13/16 -
ENST00000420910.2 c.1552_1553delinsAC p.Cys518Thr missense_variant 14/17 -
ENST00000451139.2 n.2043_2044delinsAC - non_coding_transcript_exon_variant 13/16 -
ENST00000482695.1 c.1396_1397delinsAC p.Cys466Thr missense_variant 14/17 -
NM_001136049.2 c.1552_1553delinsAC p.Cys518Thr missense_variant 14/17 -
NM_033029.3 c.1441_1442delinsAC p.Cys481Thr missense_variant 13/16 -
NR_026786.2 n.1436_1437delinsAC - non_coding_transcript_exon_variant 14/17 -
NR_026787.2 n.1325_1326delinsAC - non_coding_transcript_exon_variant 13/16 -