Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.T343T

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
12 papers
NM_001114753.3
p.T343T
c.1029C>T
Surrounding Variants
1 paper
NM_001114753.3
p.T344T
c.1032T>A
1 paper
NM_001114753.3
p.Q342fs
c.1024_1025fs
2 papers
NM_001114753.3
p.Q342delFs
c.1024delG
2 papers
NM_001114753.3
p.Q342*
c.1024C>T
4 papers
NM_001114753.3
p.I341M
c.1023C>G
1 paper
NM_001114753.3
p.I341I
c.1023C>A
1 paper
NM_001114753.3
p.I341_P345del5
c.1021_1034del15
1 paper
NM_001114753.3
p.P340P
c.1020G>A
1 paper
NM_001114753.3
p.P345_P346del1
c.1035_1037delGGA
2 papers
NM_001114753.3
p.P340L
c.1019C>T
1 paper
NM_001114753.3
p.P340R
c.1019C>G
1 paper
NM_001114753.3
p.P346delFs
c.1037delG
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