Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Q296_A302del7

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.Q296_A302del7
c.886_905del21
Surrounding Variants
1 paper
NM_173660.5
p.S295A
c.883T>G
1 paper
NM_173660.5
p.T294A
c.880A>G
1 paper
NM_173660.5
p.Q296*
c.886C>T
7 papers
NM_173660.5
p.Q296R
c.887A>G
1 paper
NM_173660.5
p.S293N
c.878G>A
2 papers
NM_173660.5
p.S289L
c.866C>T
1 paper
NM_173660.5
p.A283A
c.849A>C
1 paper
NM_173660.5
p.A306V
c.917C>T
1 paper
NM_173660.5
p.A306_A307ins2
c.918_919ins6
1 paper
NM_173660.5
p.A307T
c.919G>A
1 paper
NM_173660.5
p.A307S
c.919G>T
2 papers
NM_173660.5
p.G308delFs
c.922delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."