Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.P146L

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
8 papers
NM_173660.5
p.P146L
c.437C>T
Surrounding Variants
1 paper
NM_173660.5
p.A147insFs
c.439dupG
2 papers
NM_173660.5
p.A147delFs
c.439delG
1 paper
NM_173660.5
p.A147T
c.439G>A
1 paper
NM_173660.5
p.A147fs
c.439_440fs
2 papers
NM_173660.5
p.A147A
c.441T>A
1 paper
NM_173660.5
p.P146delFs
c.437delC
1 paper
NM_173660.5
p.T149M
c.446C>T
1 paper
NM_173660.5
p.R142W
c.424A>T
1 paper
NM_173660.5
p.Q151*
c.451C>T
1 paper
NM_173660.5
p.K153R
c.458A>G
5 papers
NM_173660.5
p.V139L
c.415G>C
3 papers
NM_173660.5
p.L138L
c.414C>T
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