Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.A487fs

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.A487fs
c.1459_1460fs
Surrounding Variants
1 paper
NM_173660.5
p.P486R
c.1457C>G
3 papers
NM_173660.5
p.P486fs
c.1456_1457fs
2 papers
NM_173660.5
p.P486insFs
c.1457dupC
3 papers
NM_173660.5
p.P486delFs
c.1457delC
2 papers
NM_173660.5
p.G479_P484delFs
c.1435_1450del16
2 papers
NM_173660.5
p.G496V
c.1487G>T
1 paper
NM_173660.5
p.G497*
c.1489G>T
5 papers
NM_173660.5
p.P503insFs
c.1508dupC
1 paper
NM_173660.5
p.P502_*505del4
c.1504_1514del12
1 paper
NM_173660.5
p.P502insFs
c.1504_1505insTA
1 paper
NM_173660.5
p.G472fs
c.1414_1415fs
1 paper
NM_173660.5
p.P471delFs
c.1413delT
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."