Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.P415S

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.P415S
c.1243C>T
Surrounding Variants
1 paper
NM_173660.5
p.L413P
c.1238T>C
1 paper
NM_173660.5
p.C412*
c.1236C>A
21 papers
NM_173660.5
p.P421_S422insFs
c.1263_1264insC
7 papers
NM_173660.5
p.P421delFs
c.1263delC
1 paper
NM_173660.5
p.S422fs
c.1264_1265fs
6 papers
NM_173660.5
p.S422fs
c.1264_1265fs
2 papers
NM_173660.5
p.S422L
c.1265C>T
1 paper
NM_173660.5
p.G424delFs
c.1271delG
1 paper
NM_173660.5
p.Q423Q
c.1269G>A
1 paper
NM_173660.5
p.G424fs
c.1270_1271fs
2 papers
NM_173660.5
p.Y405F
c.1214A>T
1 paper
NM_173660.5
p.G427G
c.1281C>T
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