Varaico: Literature-Extracted Genetic Variants

Gene:LILRB4
Variant:p.S252N

LILRB4

60 papers

RefSeq Summary

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class o...

Pfam Domains

Ig_2aa 28–117UCSCImmunoglobulin domain
igaa 130–207UCSCImmunoglobulin domain
igaa 130–207UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leukocyte immunoglobulin like receptor B4

HGNC Alias Symbols

LIR-5; ILT3; HM18; LIR5; CD85k

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278426.4
p.S252N
c.755G>A
Surrounding Variants
1 paper
NM_001278426.4
p.G237V
c.710G>T
1 paper
NM_001278426.4
p.S231S
c.693C>T
2 papers
NM_001278426.4
p.G223D
c.668G>A
1 paper
NM_001278426.4
p.G219Splc
c.655+52T>A
1 paper
NM_001278426.4
p.W258R
c.772T>C
1 paper
NM_001278426.4
p.H208Q
c.624C>A
1 paper
NM_001278426.4
p.H208Q
c.624C>G
1 paper
NM_001278426.4
p.R284C
c.850C>T
1 paper
NM_001278426.4
p.R284H
c.851G>A
1 paper
NM_001278426.4
p.G286E
c.857G>A
1 paper
NM_001278426.4
p.K287I
c.860A>T
1 paper
NM_001278426.4
p.R289G
c.865A>G
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