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.S583T

c.1748G>C

Surrounding Variants

1 paper

NM_001199138.2

p.G581D

c.1742G>A

1 paper

NM_001199138.2

p.Y585C

c.1754A>G

1 paper

NM_001199138.2

p.G581S

c.1741G>A

1 paper

NM_001199138.2

p.F578L

c.1734C>G

1 paper

NM_001199138.2

p.F578L

c.1734C>A

1 paper

NM_001199138.2

p.F578L

c.1732T>C

1 paper

NM_001199138.2

p.E576K

c.1726G>A

3 papers

NM_001199138.2

p.I591T

c.1772T>C

2 papers

NM_001199138.2

p.D593N

c.1777G>A

1 paper

NM_001199138.2

p.F598L

c.1792T>C

1 paper

NM_001199138.2

p.K568N

c.1704A>T

1 paper

NM_001199138.2

p.K568N

c.1704A>C