Varaico: Literature-Extracted Genetic Variants

Gene:KIR3DL2
Variant:p.E390D

KIR3DL2

80 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 2

HGNC Alias Symbols

cl-5; nkat4; nkat4a; nkat4b; CD158K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006737.4
p.E390D
c.1170A>C
Surrounding Variants
2 papers
NM_006737.4
p.E390D
c.1170A>T
1 paper
NM_006737.4
p.E390K
c.1168G>A
1 paper
NM_006737.4
p.D392Y
c.1174G>T
2 papers
NM_006737.4
p.D387D
c.1161C>T
4 papers
NM_006737.4
p.T397M
c.1190C>T
1 paper
NM_006737.4
p.Y398N
c.1192T>A
1 paper
NM_006737.4
p.A399T
c.1195G>A
1 paper
NM_006737.4
p.D402V
c.1205A>T
1 paper
NM_006737.4
p.V405I
c.1213G>A
3 papers
NM_006737.4
p.Q386E
c.1156C>G
1 paper
NM_006737.4
p.A378S
c.1132G>T
1 paper
NM_006737.4
p.K439Q
c.1315A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."