Varaico: Literature-Extracted Genetic Variants

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

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

22 papers

NM_001199138.2

p.S171F

c.512C>T

Surrounding Variants

7 papers

NM_001199138.2

p.G172S

c.514G>A

1 paper

NM_001199138.2

p.E170D

c.510A>T

1 paper

NM_001199138.2

p.K173E

c.517A>G

1 paper

NM_001199138.2

p.K173N

c.519A>T

1 paper

NM_001199138.2

p.G174D

c.521G>A

3 papers

NM_001199138.2

p.K175R

c.524A>G

2 papers

NM_001199138.2

p.T177S

c.529A>T

16 papers

NM_001199138.2

p.T177A

c.529A>G

1 paper

NM_001199138.2

p.C165S

c.494G>C

2 papers

NM_001199138.2

p.T177S

c.530C>G

2 papers

NM_001199138.2

p.T177N

c.530C>A

1 paper

NM_001199138.2

p.C165S

c.493T>A