Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.L362Q

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.L362Q
c.1085T>A
Surrounding Variants
1 paper
NM_001199138.2
p.Q359K
c.1075C>A
1 paper
NM_001199138.2
p.L369L
c.1105C>T
1 paper
NM_001199138.2
p.G350R
c.1048G>C
1 paper
NM_001199138.2
p.I343N
c.1028T>A
1 paper
NM_001199138.2
p.A383P
c.1147G>C
39 papers
NM_001199138.2
p.V341A
c.1022T>C
6 papers
NM_001199138.2
p.V341L
c.1021G>T
6 papers
NM_001199138.2
p.V341L
c.1021G>C
1 paper
NM_001199138.2
p.L339P
c.1016T>C
1 paper
NM_001199138.2
p.L339I
c.1015C>A
1 paper
NM_001199138.2
p.I387T
c.1160T>C
34 papers
NM_001199138.2
p.T337S
c.1010C>G
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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."