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

3 papers

NM_001199138.2

p.C258R

c.772T>C

Surrounding Variants

1 paper

NM_001199138.2

p.E260G

c.779A>G

1 paper

NM_001199138.2

p.A263S

c.787G>T

1 paper

NM_001199138.2

p.E252K

c.754G>A

1 paper

NM_001199138.2

p.L264L

c.790C>T

2 papers

NM_001199138.2

p.D248G

c.743A>G

1 paper

NM_001199138.2

p.L247fs

c.739_740fs

1 paper

NM_001199138.2

p.R270H

c.809G>A

1 paper

NM_001199138.2

p.N273Y

c.817A>T

1 paper

NM_001199138.2

p.Q241H

c.723G>C

1 paper

NM_001199138.2

p.R240Q

c.719G>A

1 paper

NM_001199138.2

p.E282A

c.845A>C

1 paper

NM_001199138.2

p.C283G

c.847T>G