Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.G468_A470ins1

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
2 papers
NM_173660.5
p.G468_A470ins1
c.1403_1408dup6
Surrounding Variants
2 papers
NM_173660.5
p.P467_G468del0
c.1399_1404del6
1 paper
NM_173660.5
p.P467A
c.1399C>G
4 papers
NM_173660.5
p.P469H
c.1406C>A
1 paper
NM_173660.5
p.E463insFs
c.1387_1388insC
1 paper
NM_173660.5
p.E463fs
c.1387_1388fs
1 paper
NM_173660.5
p.P471delFs
c.1413delT
4 papers
NM_173660.5
p.G461D
c.1382G>A
1 paper
NM_173660.5
p.G472fs
c.1414_1415fs
1 paper
NM_173660.5
p.Q460fs
c.1378_1379fs
3 papers
NM_173660.5
p.Q460*
c.1378C>T
3 papers
NM_173660.5
p.Q460fs
c.1378_1379fs
15 papers
NM_173660.5
p.Q460insFs
c.1378_1379insC
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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."