Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.G171R

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
4 papers
NM_173660.5
p.G171R
c.511G>C
Surrounding Variants
4 papers
NM_173660.5
p.G171D
c.512G>A
1 paper
NM_173660.5
p.G171G
c.513C>G
3 papers
NM_173660.5
p.G171G
c.513C>T
8 papers
NM_173660.5
p.G172R
c.514G>A
7 papers
NM_173660.5
p.G172R
c.514G>C
1 paper
NM_173660.5
p.E170insFs
c.509_510insA
1 paper
NM_173660.5
p.I168M
c.504C>G
6 papers
NM_173660.5
p.G166R
c.496G>A
4 papers
NM_173660.5
p.G166R
c.496G>C
1 paper
NM_173660.5
p.S165G
c.493A>G
1 paper
NM_173660.5
p.W178Splc
c.532+3A>T
2 papers
NM_173660.5
p.W178Splc
c.532+4A>G
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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."