Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.E269insFs

DOK7

282 papers

RefSeq Summary

The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic diffe...

Pfam Domains

IRSaa 115–203UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

docking protein 7

HGNC Previous Symbol

C4orf25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_173660.5
p.E269insFs
c.806_807insC
Surrounding Variants
1 paper
NM_173660.5
p.H272Q
c.816C>A
1 paper
NM_173660.5
p.H272Q
c.816C>G
1 paper
NM_173660.5
p.S266A
c.796T>G
1 paper
NM_173660.5
p.D274N
c.820G>A
2 papers
NM_173660.5
p.L263insFs
c.788_789insC
2 papers
NM_173660.5
p.R261H
c.782G>A
2 papers
NM_173660.5
p.A277A
c.831C>T
1 paper
NM_173660.5
p.D260G
c.779A>G
1 paper
NM_173660.5
p.D259E
c.777T>A
1 paper
NM_173660.5
p.D259E
c.777T>G
1 paper
NM_173660.5
p.R280W
c.838C>T
1 paper
NM_173660.5
p.R280L
c.839G>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."