Varaico: Literature-Extracted Genetic Variants

Gene:SDK1
Variant:p.R140H

SDK1

230 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III dom...

Pfam Domains

Ig_3aa 104–173UCSCImmunoglobulin domain
I-setaa 192–278UCSCImmunoglobulin I-set domain
Ig_3aa 292–365UCSCImmunoglobulin domain
I-setaa 386–475UCSCImmunoglobulin I-set domain
I-setaa 480–570UCSCImmunoglobulin I-set domain
I-setaa 574–664UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

sidekick cell adhesion molecule 1

HGNC Alias Symbol

FLJ31425

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152744.4
p.R140H
c.419G>A
Surrounding Variants
1 paper
NM_152744.4
p.M139V
c.415A>G
1 paper
NM_152744.4
p.W138*
c.414G>A
1 paper
NM_152744.4
p.W138C
c.414G>C
1 paper
NM_152744.4
p.W138C
c.414G>T
1 paper
NM_152744.4
p.W138*
c.413G>A
1 paper
NM_152744.4
p.E144E
c.432G>A
1 paper
NM_152744.4
p.T147S
c.439A>T
2 papers
NM_152744.4
p.E129K
c.385G>A
1 paper
NM_152744.4
p.R121H
c.362G>A
1 paper
NM_152744.4
p.L117L
c.351G>A
1 paper
NM_152744.4
p.P110T
c.328C>A
1 paper
NM_152744.4
p.T108M
c.323C>T
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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."