Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.L133R

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.L133R
c.398T>G
Surrounding Variants
3 papers
NM_173660.5
p.H132Q
c.396C>A
5 papers
NM_173660.5
p.H132Q
c.396C>G
1 paper
NM_173660.5
p.L131P
c.392T>C
1 paper
NM_173660.5
p.V137D
c.410T>A
1 paper
NM_173660.5
p.P128R
c.383C>G
3 papers
NM_173660.5
p.L138L
c.414C>T
5 papers
NM_173660.5
p.V139L
c.415G>C
4 papers
NM_173660.5
p.G127S
c.379G>A
1 paper
NM_173660.5
p.R142W
c.424A>T
1 paper
NM_173660.5
p.L124F
c.372G>C
1 paper
NM_173660.5
p.L124F
c.372G>T
1 paper
NM_173660.5
p.K123R
c.368A>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."