Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.A431T

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.A431T
c.1291G>A
Surrounding Variants
1 paper
NM_173660.5
p.A431P
c.1291G>C
1 paper
NM_173660.5
p.A430A
c.1290G>A
7 papers
NM_173660.5
p.R432_Q437delFs
c.1296_1311del16
2 papers
NM_173660.5
p.D433fs
c.1297_1298fs
1 paper
NM_173660.5
p.G427G
c.1281C>T
1 paper
NM_173660.5
p.G424fs
c.1270_1271fs
1 paper
NM_173660.5
p.T438R
c.1313C>G
1 paper
NM_173660.5
p.Q423Q
c.1269G>A
1 paper
NM_173660.5
p.G424delFs
c.1271delG
2 papers
NM_173660.5
p.S422L
c.1265C>T
1 paper
NM_173660.5
p.S439S
c.1317C>T
2 papers
NM_173660.5
p.A440T
c.1318G>A
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