Varaico: Literature-Extracted Genetic Variants

Gene:NLRC3
Variant:p.A69V

NLRC3

81 papers

RefSeq Summary

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to pr...

Pfam Domains

NACHTaa 139–305UCSCNACHT domain
WHD_NOD2aa 395–453UCSCNOD2 winged helix domain
NLRC4_HD2aa 455–582UCSCNLRC4 helical domain HD2
LRR_6aa 692–715UCSCLeucine Rich repeat
LRR_6aa 721–743UCSCLeucine Rich repeat
LRR_TMOD-LMODaa 763–847UCSCTMOD/LMOD Leucine-rich domain

Gene Aliases

HGNC Name

NLR family CARD domain containing 3

HGNC Alias Symbols

CLR16.2; FLJ00348; NOD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_178844.4
p.A69V
c.206C>T
Surrounding Variants
2 papers
NM_178844.4
p.R67C
c.199C>T
1 paper
NM_178844.4
p.S61T
c.181T>A
1 paper
NM_178844.4
p.P78L
c.233C>T
1 paper
NM_178844.4
p.G82R
c.244G>C
1 paper
NM_178844.4
p.G82R
c.244G>A
1 paper
NM_178844.4
p.L90P
c.269T>C
1 paper
NM_178844.4
p.G95ins0
c.283_285dupGGC
1 paper
NM_178844.4
p.V109L
c.325G>T
1 paper
NM_178844.4
p.V109L
c.325G>C
2 papers
NM_178844.4
p.P53L
c.158C>T
1 paper
NM_178844.4
p.A119T
c.355G>A
1 paper
NM_178844.4
p.P50L
c.149C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."