Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.C198S

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.C198S
c.593G>C
Surrounding Variants
1 paper
NM_173660.5
p.C198S
c.592T>A
6 papers
NM_173660.5
p.I199delFs
c.596delT
4 papers
NM_173660.5
p.D197N
c.589G>A
12 papers
NM_173660.5
p.R201*
c.601C>T
2 papers
NM_173660.5
p.S193G
c.577A>G
1 paper
NM_173660.5
p.S204Y
c.611C>A
1 paper
NM_173660.5
p.Q191_I192ins4
c.571_575ins12
1 paper
NM_173660.5
p.E190K
c.568G>A
1 paper
NM_173660.5
p.K207*
c.619A>T
1 paper
NM_173660.5
p.K207R
c.620A>G
2 papers
NM_173660.5
p.S186L
c.557C>T
5 papers
NM_173660.5
p.S185delFs
c.555delC
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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."