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.C191F

c.572G>T

Surrounding Variants

2 papers

NM_001199138.2

p.G189R

c.565G>C

2 papers

NM_001199138.2

p.G189R

c.565G>A

1 paper

NM_001199138.2

p.S188S

c.564C>T

1 paper

NM_001199138.2

p.S188_G189insT

c.562_566ins3

1 paper

NM_001199138.2

p.K196M

c.587A>T

1 paper

NM_001199138.2

p.V200Fs

c.599delinsGTFs

1 paper

NM_001199138.2

p.R181R

c.543A>C

1 paper

NM_001199138.2

p.R181Q

c.542G>A

4 papers

NM_001199138.2

p.R181*

c.541C>T

1 paper

NM_001199138.2

p.L203I

c.607C>A

2 papers

NM_001199138.2

p.R204H

c.611G>A

2 papers

NM_001199138.2

p.T177S

c.530C>G