Varaico: Literature-Extracted Genetic Variants

Gene:MEGF11
Variant:p.H317R

MEGF11

49 papers

Pfam Domains

EGF_PEAR1Laa 95–143UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain
hEGFaa 191–210UCSCHuman growth factor-like EGF
hEGFaa 234–253UCSCHuman growth factor-like EGF
EGF_lamininaa 275–320UCSCLaminin EGF domain
EGF_lamininaa 318–358UCSCLaminin EGF domain
EGF_lamininaa 361–409UCSCLaminin EGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 11

HGNC Alias Symbols

KIAA1781; DKFZp434L121

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001385028.1
p.H317R
c.950A>G
Surrounding Variants
1 paper
NM_001385028.1
p.G311C
c.931G>T
1 paper
NM_001385028.1
p.Q325fs
c.973_974fs
1 paper
NM_001385028.1
p.G324insFs
c.972dupG
1 paper
NM_001385028.1
p.E304K
c.910G>A
1 paper
NM_001385028.1
p.E334K
c.1000G>A
1 paper
NM_001385028.1
p.P337S
c.1009C>T
1 paper
NM_001385028.1
p.P350S
c.1048C>T
1 paper
NM_001385028.1
p.P263delFs
c.788delG
1 paper
NM_001385028.1
p.A256S
c.766G>T
1 paper
NM_001385028.1
p.M429_G430Splc
c.1287+14G>T
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