Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.Y794*

MEGF10

152 papers

RefSeq Summary

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediato...

Pfam Domains

EGF_PEAR1Laa 101–149UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain
EGF_lamininaa 152–197UCSCLaminin EGF domain
hEGFaa 197–216UCSCHuman growth factor-like EGF
hEGFaa 240–259UCSCHuman growth factor-like EGF
EGF_2aa 277–307UCSCEGF-like domain
EGF_lamininaa 367–415UCSCLaminin EGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 10

HGNC Alias Symbols

KIAA1780; SR-F3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256545.2
p.Y794*
c.2382T>A
Surrounding Variants
1 paper
NM_001256545.2
p.Y794*
c.2382T>G
1 paper
NM_001256545.2
p.I801_C802delFs
c.2403_2404delAT
1 paper
NM_001256545.2
p.C810R
c.2428T>C
3 papers
NM_001256545.2
p.C810Y
c.2429G>A
2 papers
NM_001256545.2
p.G822R
c.2464G>A
2 papers
NM_001256545.2
p.G822R
c.2464G>C
1 paper
NM_001256545.2
p.A826fs
c.2476_2477fs
1 paper
NM_001256545.2
p.A826V
c.2477C>T
2 papers
NM_001256545.2
p.C828W
c.2484T>G
2 papers
NM_001256545.2
p.K788Splc
c.2362+1G>A
1 paper
NM_001256545.2
p.K788Splc
c.2362+1G>T
1 paper
NM_001256545.2
p.R777H
c.2330G>A
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