Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.G390C

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.G390C
c.1168G>T
Surrounding Variants
1 paper
NM_001256545.2
p.G390A
c.1169G>C
1 paper
NM_001256545.2
p.C396S
c.1186T>A
1 paper
NM_001256545.2
p.C396S
c.1187G>C
1 paper
NM_001256545.2
p.N397D
c.1189A>G
2 papers
NM_001256545.2
p.P442delFs
c.1325delC
2 papers
NM_001256545.2
p.P442fs
c.1324_1325fs
1 paper
NM_001256545.2
p.C443Y
c.1328G>A
1 paper
NM_001256545.2
p.R455H
c.1364G>A
1 paper
NM_001256545.2
p.C473F
c.1418G>T
4 papers
NM_001256545.2
p.G476Splc
c.1426+1G>T
1 paper
NM_001256545.2
p.N503N
c.1509C>T
1 paper
NM_001256545.2
p.G505E
c.1514G>A
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