Varaico: Literature-Extracted Genetic Variants

Gene:DOK7

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
1–12 of 337 variants
95 papers
NM_173660.5
p.L375_P376insFs
c.1124_1127dup4
22 papers
NM_173660.5
p.A378fs
c.1132_1133fs
21 papers
NM_173660.5
p.P421_S422insFs
c.1263_1264insC
15 papers
NM_173660.5
p.S45L
c.134C>T
15 papers
NM_173660.5
p.Q460insFs
c.1378_1379insC
12 papers
NM_173660.5
p.R201*
c.601C>T
11 papers
NM_173660.5
p.R158Q
c.473G>A
9 papers
NM_173660.5
p.G180A
c.539G>C
9 papers
NM_173660.5
p.L447_G448insFs
c.1339_1342dup4
8 papers
NM_173660.5
p.V111Splc
c.331+1G>T
8 papers
NM_173660.5
p.P146L
c.437C>T
8 papers
NM_173660.5
p.G172R
c.514G>A
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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."