Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.A307S

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.A307S
c.919G>T
Surrounding Variants
1 paper
NM_173660.5
p.A307T
c.919G>A
1 paper
NM_173660.5
p.A306_A307ins2
c.918_919ins6
1 paper
NM_173660.5
p.A306V
c.917C>T
2 papers
NM_173660.5
p.G308delFs
c.922delG
1 paper
NM_173660.5
p.E309K
c.925G>A
1 paper
NM_173660.5
p.E309fs
c.925_926fs
1 paper
NM_173660.5
p.A310_M311delFs
c.930_933del4
1 paper
NM_173660.5
p.V312delFs
c.935_936delTG
1 paper
NM_173660.5
p.S315A
c.943T>G
1 paper
NM_173660.5
p.P319insFs
c.957dupC
7 papers
NM_173660.5
p.Q296R
c.887A>G
3 papers
NM_173660.5
p.P319delFs
c.957delC
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