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.E282A

c.845A>C

Surrounding Variants

1 paper

NM_001199138.2

p.C283G

c.847T>G

1 paper

NM_001199138.2

p.C283C

c.849C>T

1 paper

NM_001199138.2

p.R285del1

c.853_855delCCT

1 paper

NM_001199138.2

p.R288W

c.862C>T

1 paper

NM_001199138.2

p.F290I

c.868T>A

1 paper

NM_001199138.2

p.F290C

c.869T>G

1 paper

NM_001199138.2

p.F290S

c.869T>C

1 paper

NM_001199138.2

p.G291S

c.871G>A

1 paper

NM_001199138.2

p.N273Y

c.817A>T

1 paper

NM_001199138.2

p.R270H

c.809G>A

1 paper

NM_001199138.2

p.E296Q

c.886G>C

1 paper

NM_001199138.2

p.V297E

c.890T>A