Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.R52Q

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.R52Q
c.155G>A
Surrounding Variants
1 paper
NM_173660.5
p.E53insFs
c.158_159insC
1 paper
NM_173660.5
p.R54C
c.160C>T
1 paper
NM_173660.5
p.R54L
c.161G>T
1 paper
NM_173660.5
p.G50fs
c.148_149fs
1 paper
NM_173660.5
p.G50delFs
c.149delG
1 paper
NM_173660.5
p.L57_D61ins1
c.169_183dup15
1 paper
NM_173660.5
p.I48insFs
c.143_144insC
2 papers
NM_173660.5
p.R47C
c.139C>T
1 paper
NM_173660.5
p.S45*
c.134C>A
15 papers
NM_173660.5
p.S45L
c.134C>T
3 papers
NM_173660.5
p.L59_L69Fs
c.176_206delinsAGFs
3 papers
NM_173660.5
p.E60K
c.178G>A
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