Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.V111Splc

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.V111Splc
c.331+4A>G
Surrounding Variants
8 papers
NM_173660.5
p.V111Splc
c.331+1G>T
1 paper
NM_173660.5
p.V111M
c.331G>A
5 papers
NM_173660.5
p.G109C
c.325G>T
2 papers
NM_173660.5
p.R105C
c.313C>T
1 paper
NM_173660.5
p.A102A
c.306C>G
1 paper
NM_173660.5
p.A99V
c.296C>T
1 paper
NM_173660.5
p.A99_D101delFs
c.296_302del7
1 paper
NM_173660.5
p.C98*
c.294T>A
1 paper
NM_173660.5
p.H94H
c.282C>T
3 papers
NM_173660.5
p.D92insFs
c.275_276insC
1 paper
NM_173660.5
p.G90G
c.270C>G
1 paper
NM_173660.5
p.Q85insFs
c.254_255insT
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