Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.V362fs

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.V362fs
c.1084_1085fs
Surrounding Variants
1 paper
NM_173660.5
p.D361_V362delFs
c.1083_1086del4
1 paper
NM_173660.5
p.R364_G370delFs
c.1090_1108del19
1 paper
NM_173660.5
p.R364fs
c.1090_1091fs
1 paper
NM_173660.5
p.R364Q
c.1091G>A
2 papers
NM_173660.5
p.Y355F
c.1064A>T
1 paper
NM_173660.5
p.S354F
c.1061C>T
1 paper
NM_173660.5
p.S371*
c.1112C>A
1 paper
NM_173660.5
p.S371*
c.1112C>G
4 papers
NM_173660.5
p.S371S
c.1113A>C
95 papers
NM_173660.5
p.L375_P376insFs
c.1124_1127dup4
1 paper
NM_173660.5
p.S374fs
c.1120_1121fs
1 paper
NM_173660.5
p.S374N
c.1121G>A
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