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.Y493N

c.1477T>A

Surrounding Variants

2 papers

NM_001199138.2

p.R492Q

c.1475G>A

4 papers

NM_001199138.2

p.R492W

c.1474C>T

1 paper

NM_001199138.2

p.C495Y

c.1484G>A

2 papers

NM_001199138.2

p.D482N

c.1444G>A

1 paper

NM_001199138.2

p.S481L

c.1442C>T

1 paper

NM_001199138.2

p.A510T

c.1528G>A

1 paper

NM_001199138.2

p.C517S

c.1549T>A

1 paper

NM_001199138.2

p.C517S

c.1550G>C

1 paper

NM_001199138.2

p.G520E

c.1559G>A

2 papers

NM_001199138.2

p.S522P

c.1564T>C

1 paper

NM_001199138.2

p.A524V

c.1571C>T

1 paper

NM_001199138.2

p.S457N

c.1370G>A