Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.H76Y

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.H76Y
c.226C>T
Surrounding Variants
6 papers
NM_173660.5
p.T77M
c.230C>T
3 papers
NM_173660.5
p.L74insFs
c.220_221insC
2 papers
NM_173660.5
p.Y71F
c.212A>T
1 paper
NM_173660.5
p.V81I
c.241G>A
1 paper
NM_173660.5
p.V81F
c.241G>T
1 paper
NM_173660.5
p.P70insFs
c.208_209ins28
1 paper
NM_173660.5
p.P70Fs
c.208_209delinsGFs
1 paper
NM_173660.5
p.C82Y
c.245G>A
1 paper
NM_173660.5
p.C82_L83delFs
c.246_247delCC
1 paper
NM_173660.5
p.Q85insFs
c.254_255insT
1 paper
NM_173660.5
p.E66fs
c.196_197fs
1 paper
NM_173660.5
p.L65L
c.195G>C
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