Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R205W

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.R205W
c.613C>T
Surrounding Variants
3 papers
NM_001114753.3
p.R205P
c.614G>C
1 paper
NM_001114753.3
p.R205delFs
c.613delG
1 paper
NM_001114753.3
p.G206A
c.617G>C
1 paper
NM_001114753.3
p.G206D
c.617G>A
1 paper
NM_001114753.3
p.G206delFs
c.617delC
4 papers
NM_001114753.3
p.C207R
c.619T>C
1 paper
NM_001114753.3
p.W196_A202delFs
c.586_604del19
1 paper
NM_001278138.2
p.A20T
c.58G>A
3 papers
NM_001114753.3
p.C207del1
c.619_620delGCA
1 paper
NM_001114753.3
p.R197_P201delFs
c.590_602del13
2 papers
NM_001114753.3
p.R197_C207delFs
c.591_619del29
1 paper
NM_001114753.3
p.L194_T200delFs
c.582_600del19
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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."