Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L170P

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
6 papers
NM_001114753.3
p.L170P
c.509T>C
Surrounding Variants
1 paper
NM_001114753.3
p.L170L
c.510C>T
1 paper
NM_001114753.3
p.D164_L169del6
c.490_506del18
22 papers
NM_001114753.3
p.R171*
c.511C>T
1 paper
NM_001114753.3
p.L169L
c.507C>T
1 paper
NM_001114753.3
p.N163_L170delFs
c.489_510del22
1 paper
NM_001114753.3
p.R171P
c.512G>C
2 papers
NM_001114753.3
p.L170delFs
c.510delG
2 papers
NM_001114753.3
p.L169F
c.505C>T
1 paper
NM_001114753.3
p.S167T
c.500G>C
1 paper
NM_001114753.3
p.S167C
c.499A>T
1 paper
NM_001114753.3
p.S167G
c.499A>G
3 papers
NM_001114753.3
p.Q166fs
c.496_497fs
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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."