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.L853_L855del3

c.2557_2564del9

Surrounding Variants

1 paper

NM_001199138.2

p.E857*

c.2569G>T

1 paper

NM_001199138.2

p.Y859H

c.2575T>C

1 paper

NM_001199138.2

p.Y859C

c.2576A>G

1 paper

NM_001199138.2

p.D863G

c.2588A>G

1 paper

NM_001199138.2

p.E866Q

c.2596G>C

1 paper

NM_001199138.2

p.A841P

c.2521G>C

1 paper

NM_001199138.2

p.R874W

c.2620A>T

1 paper

NM_001199138.2

p.A883T

c.2647G>A

5 papers

NM_001199138.2

p.C890R

c.2668T>C

1 paper

NM_001199138.2

p.V892M

c.2674G>A

1 paper

NM_001199138.2

p.E905K

c.2713G>A

2 papers

NM_001199138.2

p.V910I

c.2728G>A