Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.A378fs

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
22 papers
NM_173660.5
p.A378fs
c.1132_1133fs
Surrounding Variants
7 papers
NM_173660.5
p.A378fs
c.1132_1133fs
NM_001256896.2
p.A68fs
c.202_203fs
1 paper
NM_173660.5
p.A378_G379insFs
c.1132_1136dup5
2 papers
NM_001256896.2
p.A68insFs
c.203_204insA
NM_173660.5
p.A378insFs
c.1133_1134insA
2 papers
NM_173660.5
p.A378delFs
c.1134delG
4 papers
NM_173660.5
p.A378A
c.1134G>A
1 paper
NM_173660.5
p.A380P
c.1138G>C
7 papers
NM_173660.5
p.P381_E382insFs
c.1143_1144insC
3 papers
NM_173660.5
p.P381delFs
c.1143delC
3 papers
NM_173660.5
p.A380fs
c.1138_1139fs
3 papers
NM_173660.5
p.A380_P381Fs
c.1139_1141delinsAFs
2 papers
NM_173660.5
p.P376insFs
c.1127dupC
1 paper
NM_173660.5
p.S374N
c.1121G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."