Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.E60K

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
3 papers
NM_173660.5
p.E60K
c.178G>A
Surrounding Variants
6 papers
NM_173660.5
p.E60E
c.180G>A
3 papers
NM_173660.5
p.L59_L69Fs
c.176_206delinsAGFs
1 paper
NM_173660.5
p.L57_D61ins1
c.169_183dup15
4 papers
NM_173660.5
p.G64R
c.190G>A
1 paper
NM_173660.5
p.G64Fs
c.190delinsAGCCTFs
4 papers
NM_173660.5
p.G64R
c.190G>C
1 paper
NM_173660.5
p.G64insFs
c.191_192ins4
1 paper
NM_173660.5
p.G64W
c.190G>T
1 paper
NM_173660.5
p.L65L
c.195G>C
1 paper
NM_173660.5
p.R54L
c.161G>T
1 paper
NM_173660.5
p.L65L
c.195G>T
1 paper
NM_173660.5
p.R54C
c.160C>T
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