Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.L454fs

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.L454fs
c.1360_1361fs
Surrounding Variants
4 papers
NM_173660.5
p.G453_E457delFs
c.1357_1370del14
1 paper
NM_173660.5
p.E457delFs
c.1369delG
1 paper
NM_173660.5
p.R451Q
c.1352G>A
1 paper
NM_173660.5
p.R451W
c.1351C>T
1 paper
NM_173660.5
p.R450fs
c.1348_1349fs
15 papers
NM_173660.5
p.Q460insFs
c.1378_1379insC
1 paper
NM_173660.5
p.Q460delFs
c.1378delC
1 paper
NM_173660.5
p.T449M
c.1346C>T
1 paper
NM_173660.5
p.Q460fs
c.1378_1379fs
3 papers
NM_173660.5
p.Q460*
c.1378C>T
3 papers
NM_173660.5
p.Q460fs
c.1378_1379fs
1 paper
NM_173660.5
p.G448fs
c.1342_1343fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."