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.Q306H

c.918G>T

Surrounding Variants

1 paper

NM_001199138.2

p.A307T

c.919G>A

1 paper

NM_001199138.2

p.L308F

c.922C>T

1 paper

NM_001199138.2

p.A305T

c.913G>A

10 papers

NM_001199138.2

p.R310*

c.928C>T

5 papers

NM_001199138.2

p.D303N

c.907G>A

1 paper

NM_001199138.2

p.E311K

c.931G>A

1 paper

NM_001199138.2

p.V297E

c.890T>A

1 paper

NM_001199138.2

p.E296Q

c.886G>C

1 paper

NM_001199138.2

p.G291S

c.871G>A

1 paper

NM_001199138.2

p.F290C

c.869T>G

1 paper

NM_001199138.2

p.F290S

c.869T>C

1 paper

NM_001199138.2

p.F290I

c.868T>A