Varaico: Literature-Extracted Genetic Variants

Gene:SDK1
Variant:p.S217R

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.S217R
c.649A>C
Surrounding Variants
1 paper
NM_152744.4
p.S217R
c.651C>A
1 paper
NM_152744.4
p.S217R
c.651C>G
1 paper
NM_152744.4
p.P214L
c.641C>T
1 paper
NM_152744.4
p.R206H
c.617G>A
1 paper
NM_152744.4
p.G205G
c.615A>T
1 paper
NM_152744.4
p.N236S
c.707A>G
1 paper
NM_152744.4
p.R237T
c.710G>C
1 paper
NM_152744.4
p.T196M
c.587C>T
1 paper
NM_152744.4
p.G191_S192ins2
c.573_574ins6
1 paper
NM_152744.4
p.A188T
c.562G>A
1 paper
NM_152744.4
p.A188P
c.562G>C
1 paper
NM_152744.4
p.V187F
c.559G>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."