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

12 papers

NM_001199138.2

p.G786V

c.2357G>T

Surrounding Variants

1 paper

NM_001199138.2

p.L787V

c.2359C>G

1 paper

NM_001199138.2

p.K788N

c.2364A>T

1 paper

NM_001199138.2

p.K788N

c.2364A>C

1 paper

NM_001199138.2

p.L790V

c.2368C>G

1 paper

NM_001199138.2

p.C794R

c.2380T>C

1 paper

NM_001199138.2

p.D809G

c.2426A>G

1 paper

NM_001199138.2

p.S817G

c.2449A>G

1 paper

NM_001199138.2

p.S829S

c.2487C>T

1 paper

NM_001199138.2

p.A841P

c.2521G>C

1 paper

NM_001199138.2

p.L853_L855del3

c.2557_2564del9

1 paper

NM_001199138.2

p.E857*

c.2569G>T

1 paper

NM_001199138.2

p.Y859H

c.2575T>C