Varaico: Literature-Extracted Genetic Variants

KIR3DL1

118 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 35–108UCSCImmunoglobulin domain

igaa 130–208UCSCImmunoglobulin domain

igaa 230–305UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

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

HGNC Alias Symbols

cl-2; NKB1; cl-11; nkat3; NKB1B; AMB11; CD158e1/2; CD158E1; CD158e2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 129 variants

12 papers

NM_013289.4

p.G159W

c.475G>T

9 papers

NM_013289.4

p.S79G

c.235A>G

8 papers

NM_013289.4

p.L187R

c.560T>G

7 papers

NM_013289.4

p.P184S

c.550C>T

5 papers

NM_013289.4

p.S107L

c.320C>T

5 papers

NM_013289.4

p.V113M

c.337G>A

5 papers

NM_013289.4

p.L427M

c.1279T>A

5 papers

NM_013289.4

p.T429M

c.1286C>T

4 papers

NM_013289.4

p.I68V

c.202A>G

4 papers

NM_013289.4

p.P220L

c.659C>T

4 papers

NM_013289.4

p.I341V

c.1021A>G

4 papers

NM_013289.4

p.E394Q

c.1180G>C