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.L369L

c.1105C>T

Surrounding Variants

1 paper

NM_001199138.2

p.L362Q

c.1085T>A

1 paper

NM_001199138.2

p.Q359K

c.1075C>A

1 paper

NM_001199138.2

p.A383P

c.1147G>C

1 paper

NM_001199138.2

p.I387T

c.1160T>C

1 paper

NM_001199138.2

p.G350R

c.1048G>C

2 papers

NM_001199138.2

p.R388Q

c.1163G>A

1 paper

NM_001199138.2

p.H392del1

c.1174_1175delGTG

1 paper

NM_001199138.2

p.I343N

c.1028T>A

39 papers

NM_001199138.2

p.V341A

c.1022T>C

6 papers

NM_001199138.2

p.V341L

c.1021G>T

6 papers

NM_001199138.2

p.V341L

c.1021G>C

1 paper

NM_001199138.2

p.L339P

c.1016T>C