Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.R323C

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.R323C
c.967C>T
Surrounding Variants
1 paper
NM_173660.5
p.P321L
c.962C>T
1 paper
NM_173660.5
p.K320fs
c.958_959fs
1 paper
NM_173660.5
p.P318insFs
c.953_954insA
1 paper
NM_173660.5
p.P319insFs
c.957dupC
3 papers
NM_173660.5
p.P319delFs
c.957delC
1 paper
NM_173660.5
p.E329Q
c.985G>C
1 paper
NM_173660.5
p.S315A
c.943T>G
1 paper
NM_173660.5
p.Q333*
c.997C>T
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.V312delFs
c.935_936delTG
1 paper
NM_173660.5
p.A310_M311delFs
c.930_933del4
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