Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.W624R

NLRC4

299 papers

RefSeq Summary

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage...

Pfam Domains

CARDaa 1–87UCSCCaspase recruitment domain
NACHTaa 163–316UCSCNACHT domain
NACHTaa 163–316UCSCNACHT domain
WHD_Nlrc4aa 385–440UCSCNlrc4-like, winged helix domain
NLRC4_HDaa 465–579UCSCNLRC4 helical domain

Gene Aliases

HGNC Name

NLR family CARD domain containing 4

HGNC Previous Symbol

CARD12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199138.2
p.W624R
c.1870T>C
Surrounding Variants
1 paper
NM_001199138.2
p.W624R
c.1870T>A
1 paper
NM_001199138.2
p.E625K
c.1873G>A
1 paper
NM_001199138.2
p.G633R
c.1897G>C
1 paper
NM_001199138.2
p.G633R
c.1897G>A
1 paper
NM_001199138.2
p.K613N
c.1839A>T
1 paper
NM_001199138.2
p.K613N
c.1839A>C
1 paper
NM_001199138.2
p.M636K
c.1907T>A
1 paper
NM_001199138.2
p.F611L
c.1833C>G
1 paper
NM_001199138.2
p.F611L
c.1833C>A
1 paper
NM_001199138.2
p.F611L
c.1831T>C
1 paper
NM_001199138.2
p.A608A
c.1824C>T
1 paper
NM_001199138.2
p.C605S
c.1814G>C
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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."