Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.G331Splc

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.G331Splc
c.992-1G>C
Surrounding Variants
8 papers
NM_001114753.3
p.G331Splc
c.992-1G>A
4 papers
NM_001114753.3
p.G332fs
c.994_995fs
3 papers
NM_001114753.3
p.G332delFs
c.995delC
5 papers
NM_001114753.3
p.R333W
c.997A>T
2 papers
NM_001114753.3
p.R333G
c.997A>G
8 papers
NM_001114753.3
p.R333M
c.998G>T
1 paper
NM_001114753.3
p.R333R
c.999G>A
1 paper
NM_001114753.3
p.L334delFs
c.1000delG
1 paper
NM_001114753.3
p.R333_L334delFs
c.997_1001del5
1 paper
NM_001114753.3
p.Q335L
c.1004A>T
1 paper
NM_001114753.3
p.T336insFs
c.1007_1008insG
1 paper
NM_001114753.3
p.S337fs
c.1009_1010fs
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