Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Y348F

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.Y348F
c.1043A>T
Surrounding Variants
1 paper
NM_173660.5
p.S346_S354del9
c.1036_1061del27
1 paper
NM_173660.5
p.G343C
c.1027G>T
1 paper
NM_173660.5
p.S354F
c.1061C>T
1 paper
NM_173660.5
p.T342A
c.1024A>G
2 papers
NM_173660.5
p.Y355F
c.1064A>T
1 paper
NM_173660.5
p.I340I
c.1020C>T
1 paper
NM_173660.5
p.D361_V362delFs
c.1083_1086del4
1 paper
NM_173660.5
p.V362fs
c.1084_1085fs
3 papers
NM_173660.5
p.S334_D337insFs
c.1001_1011dup11
1 paper
NM_173660.5
p.S334G
c.1000A>G
1 paper
NM_173660.5
p.R364_G370delFs
c.1090_1108del19
1 paper
NM_173660.5
p.Q333*
c.997C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."