Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.L447_G448insFs

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
9 papers
NM_173660.5
p.L447_G448insFs
c.1339_1342dup4
Surrounding Variants
1 paper
NM_173660.5
p.S444insFs
c.1332dupT
1 paper
NM_173660.5
p.P443P
c.1329C>T
1 paper
NM_173660.5
p.G445S
c.1333G>A
1 paper
NM_173660.5
p.P443delFs
c.1327delC
1 paper
NM_173660.5
p.G441_T449insFs
c.1322_1347dup26
2 papers
NM_173660.5
p.A440T
c.1318G>A
1 paper
NM_173660.5
p.G448fs
c.1342_1343fs
1 paper
NM_173660.5
p.S439S
c.1317C>T
1 paper
NM_173660.5
p.T449M
c.1346C>T
1 paper
NM_173660.5
p.T438R
c.1313C>G
1 paper
NM_173660.5
p.R450fs
c.1348_1349fs
1 paper
NM_173660.5
p.R451W
c.1351C>T
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