Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P130S

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
4 papers
NM_001114753.3
p.P130S
c.388C>T
Surrounding Variants
1 paper
NM_001114753.3
p.P130fs
c.388_389fs
1 paper
NM_001114753.3
p.P131fs
c.391_392fs
1 paper
NM_001114753.3
p.Q128delFs
c.384delT
21 papers
NM_001114753.3
p.P131L
c.392C>T
2 papers
NM_001114753.3
p.P131fs
c.391_392fs
5 papers
NM_001114753.3
p.P131delFs
c.392delG
1 paper
NM_001114753.3
p.P130delFs
c.388_389delGG
2 papers
NM_001114753.3
p.P131delFs
c.392_393delCG
3 papers
NM_001114753.3
p.Q128E
c.382C>G
1 paper
NM_001114753.3
p.V125A
c.374T>C
10 papers
NM_001114753.3
p.V125D
c.374T>A
1 paper
NM_001114753.3
p.T135P
c.403A>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."