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

2 papers

NM_001199138.2

p.L130delFs

c.390delC

Surrounding Variants

2 papers

NM_001199138.2

p.S132fs

c.394_395fs

1 paper

NM_001199138.2

p.T133I

c.398C>T

1 paper

NM_001199138.2

p.I126T

c.377T>C

1 paper

NM_001199138.2

p.I124T

c.371T>C

5 papers

NM_001199138.2

p.G121V

c.362G>T

1 paper

NM_001199138.2

p.D143A

c.428A>C

1 paper

NM_001199138.2

p.W140_K142delFs

c.420_426del7

1 paper

NM_001199138.2

p.Q144R

c.431A>G

1 paper

NM_001199138.2

p.L115L

c.345G>T

1 paper

NM_001199138.2

p.R148L

c.443G>T

1 paper

NM_001199138.2

p.R148H

c.443G>A

1 paper

NM_001199138.2

p.S113F

c.338C>T