Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L14P

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.L14P
c.41T>C
Surrounding Variants
1 paper
NM_001114753.3
p.L14M
c.40C>A
2 papers
NM_001114753.3
p.L13fs
c.37_38fs
1 paper
NM_001114753.3
p.A15T
c.43G>A
1 paper
NM_001114753.3
p.L13_L14del2
c.37_41del6
1 paper
NM_001114753.3
p.R3_L14del12
c.7_41del36
1 paper
NM_001114753.3
p.L13Q
c.38T>A
3 papers
NM_001114753.3
p.L13delFs
c.37delG
1 paper
NM_001114753.3
p.L13L
c.37C>T
1 paper
NM_001114753.3
p.A9_L14del6
c.25_41del18
1 paper
NM_001114753.3
p.L12V
c.34C>G
2 papers
NM_001114753.3
p.L12insFs
c.34_35ins11
2 papers
NM_001114753.3
p.A11D
c.32C>A
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