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.W529C

c.1587G>C

Surrounding Variants

1 paper

NM_001199138.2

p.W529C

c.1587G>T

8 papers

NM_001199138.2

p.S533A

c.1597T>G

1 paper

NM_001199138.2

p.A524V

c.1571C>T

2 papers

NM_001199138.2

p.S522P

c.1564T>C

1 paper

NM_001199138.2

p.K538N

c.1614A>T

1 paper

NM_001199138.2

p.K538N

c.1614A>C

1 paper

NM_001199138.2

p.G520E

c.1559G>A

1 paper

NM_001199138.2

p.C517S

c.1550G>C

2 papers

NM_001199138.2

p.E542K

c.1624G>A

1 paper

NM_001199138.2

p.C517S

c.1549T>A

2 papers

NM_001199138.2

p.E544K

c.1630G>A

1 paper

NM_001199138.2

p.A510T

c.1528G>A