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.R388Q

c.1163G>A

Surrounding Variants

1 paper

NM_001199138.2

p.I387T

c.1160T>C

1 paper

NM_001199138.2

p.H392del1

c.1174_1175delGTG

1 paper

NM_001199138.2

p.A383P

c.1147G>C

1 paper

NM_001199138.2

p.V401A

c.1202T>C

1 paper

NM_001199138.2

p.D407H

c.1219G>C

1 paper

NM_001199138.2

p.L369L

c.1105C>T

1 paper

NM_001199138.2

p.F408F

c.1224C>T

1 paper

NM_001199138.2

p.E409Q

c.1225G>C

1 paper

NM_001199138.2

p.L410P

c.1229T>C

1 paper

NM_001199138.2

p.Q411H

c.1233G>T

1 paper

NM_001199138.2

p.S414A

c.1240T>G

1 paper

NM_001199138.2

p.L362Q

c.1085T>A