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.I223M

c.669A>G

Surrounding Variants

1 paper

NM_001199138.2

p.G211E

c.632G>A

1 paper

NM_001199138.2

p.A208A

c.624C>A

4 papers

NM_001199138.2

p.R207K

c.620G>A

1 paper

NM_001199138.2

p.R240Q

c.719G>A

1 paper

NM_001199138.2

p.Q241H

c.723G>C

2 papers

NM_001199138.2

p.R204H

c.611G>A

1 paper

NM_001199138.2

p.L203I

c.607C>A

1 paper

NM_001199138.2

p.V200Fs

c.599delinsGTFs

1 paper

NM_001199138.2

p.L247fs

c.739_740fs

2 papers

NM_001199138.2

p.D248G

c.743A>G

1 paper

NM_001199138.2

p.K196M

c.587A>T

1 paper

NM_001199138.2

p.E252K

c.754G>A