Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.C118R

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
5 papers
NM_001256545.2
p.C118R
c.352T>C
Surrounding Variants
1 paper
NM_001256545.2
p.C124R
c.370T>C
1 paper
NM_001256545.2
p.G129D
c.386G>A
2 papers
NM_001256545.2
p.G131_G132del2
c.391_395del6
1 paper
NM_001256545.2
p.W130C
c.390G>C
1 paper
NM_001256545.2
p.C135fs
c.403_404fs
1 paper
NM_001256545.2
p.A138Splc
c.412+2T>C
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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."