Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S50L

ENG

734 papers

RefSeq Summary

This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and...

Pfam Domains

TGFBR3_Naa 45–198UCSCTGFBR3-like, N-terminal domain

Gene Aliases

HGNC Name

endoglin

HGNC Previous Symbols

ORW1; ORW

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114753.3
p.S50L
c.149C>T
Surrounding Variants
1 paper
NM_001114753.3
p.S50A
c.148T>G
5 papers
NM_001114753.3
p.S50S
c.150G>T
1 paper
NM_001114753.3
p.S50S
c.150G>A
2 papers
NM_001114753.3
p.V49_S50insFs
c.147_148insT
5 papers
NM_001114753.3
p.Q48_V49insFs
c.144_145insG
1 paper
NM_001114753.3
p.V49A
c.146T>C
5 papers
NM_001114753.3
p.V49delFs
c.145delC
9 papers
NM_001114753.3
p.V49F
c.145G>T
1 paper
NM_001114753.3
p.K51_G52insFs
c.153_154insC
1 paper
NM_001114753.3
p.Q48H
c.144G>T
1 paper
NM_001114753.3
p.Q48insFs
c.143dupA
2 papers
NM_001114753.3
p.G52R
c.154G>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."