Varaico: Literature-Extracted Genetic Variants

KIR2DL1

121 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 35–113UCSCImmunoglobulin domain

igaa 136–211UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1

HGNC Alias Symbols

cl-42; nkat1; 47.11; p58.1; CD158A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_014218.3

p.V111L

c.331G>T

Surrounding Variants

5 papers

NM_014218.3

p.V111L

c.331G>C

1 paper

NM_014218.3

p.A113D

c.338C>A

1 paper

NM_014218.3

p.S115G

c.343A>G

1 paper

NM_014218.3

p.P117S

c.349C>T

1 paper

NM_014218.3

p.V104V

c.312T>A

1 paper

NM_014218.3

p.Y101Y

c.303C>T

1 paper

NM_014218.3

p.I120N

c.359T>A

1 paper

NM_014218.3

p.T91T

c.273G>A

8 papers

NM_014218.3

p.T91K

c.272C>A

2 papers

NM_014218.3

p.T91M

c.272C>T

1 paper

NM_014218.3

p.R89P

c.266G>C

2 papers

NM_014218.3

p.R89C

c.265C>T