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

1 paper

NM_001199138.2

p.V664A

c.1991T>C

Surrounding Variants

1 paper

NM_001199138.2

p.R667W

c.1999C>T

1 paper

NM_001199138.2

p.S670R

c.2010C>A

9 papers

NM_001199138.2

p.Q657L

c.1970A>T

14 papers

NM_001199138.2

p.W655C

c.1965G>T

14 papers

NM_001199138.2

p.W655C

c.1965G>C

3 papers

NM_001199138.2

p.W655S

c.1964G>C

1 paper

NM_001199138.2

p.D676H

c.2026G>C

1 paper

NM_001199138.2

p.L680V

c.2038C>G

1 paper

NM_001199138.2

p.G681insFs

c.2043dupG

1 paper

NM_001199138.2

p.K682fs

c.2044_2045fs

1 paper

NM_001199138.2

p.M636K

c.1907T>A

1 paper

NM_001199138.2

p.I694T

c.2081T>C