Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.G497*

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.G497*
c.1489G>T
Surrounding Variants
2 papers
NM_173660.5
p.G496V
c.1487G>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.P503T
c.1507C>A
1 paper
NM_173660.5
p.P504fs
c.1510_1511fs
5 papers
NM_173660.5
p.P504_*505del1
c.1511_1513delCTT
4 papers
NM_173660.5
p.*505R
c.1513T>C
1 paper
NM_173660.5
p.A487fs
c.1459_1460fs
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
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