Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A159S

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
2 papers
NM_001114753.3
p.A159S
c.475G>T
Surrounding Variants
1 paper
NM_001114753.3
p.T157_S158delFs
c.471_472delAG
1 paper
NM_001114753.3
p.S158delFs
c.473delG
1 paper
NM_001114753.3
p.S158Y
c.473C>A
1 paper
NM_001114753.3
p.A160fs
c.478_479fs
1 paper
NM_001114753.3
p.A159delFs
c.476_477delAG
10 papers
NM_001114753.3
p.A160D
c.479C>A
1 paper
NM_001114753.3
p.A160delFs
c.478delC
3 papers
NM_001114753.3
p.I156fs
c.466_467fs
1 paper
NM_001114753.3
p.T157_E161del5
c.469_482del15
1 paper
NM_001114753.3
p.I156V
c.466A>G
4 papers
NM_001114753.3
p.L162R
c.485T>G
1 paper
NM_001114753.3
p.A160_L162insFs
c.480_486dup7
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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."