Varaico: Literature-Extracted Genetic Variants

KIR2DL4

84 papers

RefSeq Summary

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they ...

Pfam Domains

igaa 37–110UCSCImmunoglobulin domain

igaa 132–207UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4

HGNC Alias Symbols

103AS; 15.212; CD158D

Papers

RefSeq ID

Protein change

DNA change

1–12 of 127 variants

9 papers

NM_001080770.2

p.Y53C

c.158A>G

5 papers

NM_001080770.2

p.L166P

c.497T>C

4 papers

NM_001080770.2

p.E162K

c.484G>A

4 papers

NM_001080770.2

p.I174V

c.520A>G

3 papers

NM_001080770.2

p.F100S

c.299T>C

3 papers

NM_001080770.2

p.E124G

c.371A>G

3 papers

NM_001080770.2

p.T129S

c.385A>T

3 papers

NM_001080770.2

p.Q149K

c.445C>A

3 papers

NM_001080770.2

p.Q149R

c.446A>G

3 papers

NM_001080770.2

p.I154M

c.462C>G

3 papers

NM_001080770.2

p.E162G

c.485A>G

3 papers

NM_001080770.2

p.A170G

c.509C>G