Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.K123R

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.K123R
c.368A>G
Surrounding Variants
1 paper
NM_173660.5
p.T122T
c.366C>A
1 paper
NM_173660.5
p.L124F
c.372G>C
1 paper
NM_173660.5
p.L124F
c.372G>T
4 papers
NM_173660.5
p.G127S
c.379G>A
1 paper
NM_173660.5
p.P128R
c.383C>G
1 paper
NM_173660.5
p.T117S
c.349A>T
1 paper
NM_173660.5
p.V116insFs
c.348dupG
4 papers
NM_173660.5
p.V116M
c.346G>A
1 paper
NM_173660.5
p.V116_V118del0
c.346_354del9
1 paper
NM_173660.5
p.L131P
c.392T>C
3 papers
NM_173660.5
p.H132Q
c.396C>A
5 papers
NM_173660.5
p.H132Q
c.396C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."