Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Y395insFs

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.Y395insFs
c.1184_1185insT
Surrounding Variants
2 papers
NM_173660.5
p.Y395F
c.1184A>T
1 paper
NM_173660.5
p.Y395*
c.1185C>A
2 papers
NM_173660.5
p.Y395*
c.1185C>G
4 papers
NM_173660.5
p.Y395Y
c.1185C>T
1 paper
NM_173660.5
p.Y395fs
c.1183_1184fs
2 papers
NM_173660.5
p.T399_H404delFs
c.1197_1212del16
1 paper
NM_173660.5
p.T392I
c.1175C>T
1 paper
NM_173660.5
p.G391R
c.1171G>A
1 paper
NM_173660.5
p.G391R
c.1171G>C
1 paper
NM_173660.5
p.G391delFs
c.1171delG
2 papers
NM_173660.5
p.S400fs
c.1198_1199fs
1 paper
NM_173660.5
p.R402Q
c.1205G>A
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