Variant ID: 16-50745591-G-C

NM_022162.1(NOD2):c.1769G>C;(p.Gly590Ala)

This variant was identified in 3 publications




Publications:


An update on the genetics of atopic dermatitis: scratching the surface in 2009.

The Journal Of Allergy And Clinical Immunology
KC Barnes
Publication Date: 2010-01

Variant appearance in text: CARD15: G590A
PubMed Link: 20109730
Variant Present in the following documents:
  • NIHMS159937-supplement-1.doc
View BVdb publication page



Pharmacogenetics in inflammatory bowel disease.

World Journal Of Gastroenterology
M Pierik, P Rutgeerts, R Vlietinck, S Vermeire
Publication Date: 2006-06-21

Variant appearance in text: CARD15: G590A
PubMed Link: 16773681
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: NOD2: G590A
PubMed Link: 16097053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000300589.2 c.1769G>C p.Gly590Ala missense_variant 4/12 -
NM_001293557.2 c.1688G>C p.Gly563Ala missense_variant 3/11 -
NM_001370466.1 c.1688G>C p.Gly563Ala missense_variant 4/12 -
NM_022162.3 c.1769G>C p.Gly590Ala missense_variant 4/12 -
NR_163434.1 n.1753G>C - non_coding_transcript_exon_variant 4/13 -