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.T450I

c.1349C>T

Surrounding Variants

1 paper

NM_001199138.2

p.A451G

c.1352C>G

14 papers

NM_001199138.2

p.S445P

c.1333T>C

6 papers

NM_001199138.2

p.H443Q

c.1329C>G

6 papers

NM_001199138.2

p.H443Q

c.1329C>A

1 paper

NM_001199138.2

p.S457N

c.1370G>A

37 papers

NM_001199138.2

p.H443P

c.1328A>C

1 paper

NM_001199138.2

p.P437P

c.1311A>C

1 paper

NM_001199138.2

p.V420_L426del7

c.1258_1277del21

1 paper

NM_001199138.2

p.S481L

c.1442C>T

1 paper

NM_001199138.2

p.D419H

c.1255G>C

2 papers

NM_001199138.2

p.D482N

c.1444G>A

1 paper

NM_001199138.2

p.S414A

c.1240T>G