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

1–12 of 274 variants

39 papers

NM_001199138.2

p.V341A

c.1022T>C

37 papers

NM_001199138.2

p.H443P

c.1328A>C

34 papers

NM_001199138.2

p.T337S

c.1009A>T

34 papers

NM_001199138.2

p.T337S

c.1010C>G

22 papers

NM_001199138.2

p.S171F

c.512C>T

16 papers

NM_001199138.2

p.T177A

c.529A>G

14 papers

NM_001199138.2

p.S445P

c.1333T>C

14 papers

NM_001199138.2

p.W655C

c.1965G>T

14 papers

NM_001199138.2

p.W655C

c.1965G>C

12 papers

NM_001199138.2

p.G786V

c.2357G>T

10 papers

NM_001199138.2

p.R310*

c.928C>T

9 papers

NM_001199138.2

p.Q657L

c.1970A>T