Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R171P

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
1 paper
NM_001114753.3
p.R171P
c.512G>C
Surrounding Variants
2 papers
NM_001114753.3
p.L170delFs
c.510delG
22 papers
NM_001114753.3
p.R171*
c.511C>T
1 paper
NM_001114753.3
p.N163_L170delFs
c.489_510del22
1 paper
NM_001114753.3
p.L170L
c.510C>T
6 papers
NM_001114753.3
p.L170P
c.509T>C
1 paper
NM_001114753.3
p.D164_L169del6
c.490_506del18
1 paper
NM_001114753.3
p.L169L
c.507C>T
2 papers
NM_001114753.3
p.L169F
c.505C>T
1 paper
NM_001114753.3
p.Q174R
c.521A>G
1 paper
NM_001114753.3
p.S167_Q174delFs
c.499_520del22
1 paper
NM_001114753.3
p.A175S
c.523G>T
3 papers
NM_001114753.3
p.A175P
c.523G>C
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