Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.M115T

MEGF6

157 papers

Pfam Domains

FXa_inhibitionaa 60–95UCSCCoagulation Factor Xa inhibitory site
cEGFaa 119–139UCSCComplement Clr-like EGF-like
EGF_CAaa 180–219UCSCCalcium-binding EGF domain
FXa_inhibitionaa 230–265UCSCCoagulation Factor Xa inhibitory site
EGF_CAaa 267–305UCSCCalcium-binding EGF domain
EGF_CAaa 307–346UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 6

HGNC Previous Symbol

EGFL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001409.4
p.M115T
c.344T>C
Surrounding Variants
1 paper
NM_001409.4
p.R112Q
c.335G>A
1 paper
NM_001409.4
p.R105Q
c.314G>A
1 paper
NM_001409.4
p.S125L
c.374C>T
1 paper
NM_001409.4
p.R105W
c.313C>T
1 paper
NM_001409.4
p.R88W
c.262C>T
1 paper
NM_001409.4
p.W82delFs
c.246delC
1 paper
NM_001409.4
p.W82fs
c.244_245fs
1 paper
NM_001409.4
p.A81G
c.242C>G
1 paper
NM_001409.4
p.H68_T69insGCT
c.202_206ins9
1 paper
NM_001409.4
p.C62W
c.186C>G
1 paper
NM_001409.4
p.Q60*
c.178C>T
1 paper
NM_001409.4
p.R58fs
c.172_173fs
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