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.L334F

c.1000C>T

Surrounding Variants

1 paper

NM_001199138.2

p.M335L

c.1003A>T

1 paper

NM_001199138.2

p.M335L

c.1003A>C

34 papers

NM_001199138.2

p.T337S

c.1009A>T

3 papers

NM_001199138.2

p.T337A

c.1009A>G

34 papers

NM_001199138.2

p.T337S

c.1010C>G

8 papers

NM_001199138.2

p.T337N

c.1010C>A

1 paper

NM_001199138.2

p.L339I

c.1015C>A

1 paper

NM_001199138.2

p.L339P

c.1016T>C

1 paper

NM_001199138.2

p.L323_K327delFs

c.967_979del13

6 papers

NM_001199138.2

p.V341L

c.1021G>T

6 papers

NM_001199138.2

p.V341L

c.1021G>C

39 papers

NM_001199138.2

p.V341A

c.1022T>C