Varaico: Literature-Extracted Genetic Variants

Gene:ALCAM
Variant:p.Q252H

ALCAM

100 papers

RefSeq Summary

This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immun...

Pfam Domains

C2-set_2aa 137–231UCSCCD80-like C2-set immunoglobulin domain
Ig_3aa 249–315UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

activated leukocyte cell adhesion molecule

HGNC Alias Symbols

CD166; MEMD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001627.4
p.Q252H
c.756A>T
Surrounding Variants
1 paper
NM_001627.4
p.I251V
c.751A>G
1 paper
NM_001627.4
p.V249M
c.745G>A
5 papers
NM_001627.4
p.N258S
c.773A>G
1 paper
NM_001627.4
p.I260V
c.778A>G
1 paper
NM_001627.4
p.K269N
c.807A>C
1 paper
NM_001627.4
p.K269N
c.807A>T
1 paper
NM_001627.4
p.G274A
c.821G>C
2 papers
NM_001627.4
p.P278fs
c.832_833fs
1 paper
NM_001627.4
p.P278L
c.833C>T
1 paper
NM_001627.4
p.E279*
c.835G>T
1 paper
NM_001627.4
p.F283I
c.847T>A
1 paper
NM_001627.4
p.Y284N
c.850T>A
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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."