Varaico: Literature-Extracted Genetic Variants

Gene:CLMP
Variant:p.V130Splc

CLMP

40 papers

RefSeq Summary

This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene i...

Pfam Domains

V-setaa 19–129UCSCImmunoglobulin V-set domain
Ig_2aa 134–225UCSCImmunoglobulin domain
Opalinaa 226–328UCSCOpalin

Gene Aliases

HGNC Name

CXADR like cell adhesion molecule

HGNC Alias Symbols

ASAM; FLJ22415; ACAM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024769.5
p.V130Splc
c.389-2A>C
Surrounding Variants
7 papers
NM_024769.5
p.C137Y
c.410G>A
1 paper
NM_024769.5
p.T159fs
c.475_476fs
1 paper
NM_024769.5
p.T159fs
c.475_476fs
2 papers
NM_024769.5
p.T159delFs
c.476_477delTG
6 papers
NM_024769.5
p.R168*
c.502C>T
6 papers
NM_024769.5
p.R170*
c.508C>T
2 papers
NM_024769.5
p.R170Q
c.509G>A
1 paper
NM_024769.5
p.E171A
c.512A>C
1 paper
NM_024769.5
p.G174*
c.520G>T
1 paper
NM_024769.5
p.R178C
c.532C>T
1 paper
NM_024769.5
p.R192*
c.574C>T
5 papers
NM_024769.5
p.N197delFs
c.589delT
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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."