Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.V371insFs

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.V371insFs
c.1112_1113insG
Surrounding Variants
1 paper
NM_001114753.3
p.V371insFs
c.1112dupT
2 papers
NM_001114753.3
p.V371_L372insFs
c.1113_1114insG
3 papers
NM_001114753.3
p.V371fs
c.1111_1112fs
1 paper
NM_001114753.3
p.V371delFs
c.1112delA
1 paper
NM_001114753.3
p.L372_K373insCC
c.1114_1118ins6
4 papers
NM_001114753.3
p.L370P
c.1109T>C
1 paper
NM_001114753.3
p.L372P
c.1115T>C
1 paper
NM_001114753.3
p.L372_K373insFs
c.1116_1117insT
1 paper
NM_001114753.3
p.K373*
c.1117A>T
2 papers
NM_001114753.3
p.K373insFs
c.1117_1118insT
2 papers
NM_001114753.3
p.K373fs
c.1117_1118fs
1 paper
NM_001114753.3
p.M368R
c.1103T>G
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