Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Y160D

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
1 paper
NM_173660.5
p.Y160D
c.478T>G
Surrounding Variants
4 papers
NM_173660.5
p.Y160*
c.480C>A
2 papers
NM_173660.5
p.Y160*
c.480C>G
1 paper
NM_173660.5
p.R159H
c.476G>A
5 papers
NM_173660.5
p.G161R
c.481G>A
5 papers
NM_173660.5
p.G161R
c.481G>C
11 papers
NM_173660.5
p.R158Q
c.473G>A
3 papers
NM_173660.5
p.R158W
c.472C>T
3 papers
NM_173660.5
p.L157R
c.470T>G
2 papers
NM_173660.5
p.D156delFs
c.467delA
1 paper
NM_173660.5
p.S165G
c.493A>G
6 papers
NM_173660.5
p.G166R
c.496G>A
4 papers
NM_173660.5
p.G166R
c.496G>C
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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."