Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L376R

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
3 papers
NM_001114753.3
p.L376R
c.1127T>G
Surrounding Variants
1 paper
NM_001114753.3
p.L376P
c.1127T>C
2 papers
NM_001114753.3
p.L376H
c.1127T>A
1 paper
NM_001114753.3
p.L376_V377insFs
c.1128_1129insA
2 papers
NM_001114753.3
p.L376V
c.1126C>G
2 papers
NM_001114753.3
p.E375_L376insFs
c.1125_1126ins4
1 paper
NM_001114753.3
p.E375delFs
c.1124_1125delCT
1 paper
NM_001114753.3
p.M368_E375delFs
c.1104_1125del22
1 paper
NM_001114753.3
p.L376insFs
c.1128dupT
1 paper
NM_001114753.3
p.E375fs
c.1123_1124fs
1 paper
NM_001114753.3
p.V377I
c.1129G>A
2 papers
NM_001114753.3
p.K374_E375delFs
c.1121_1124del4
2 papers
NM_001114753.3
p.E375G
c.1124A>G
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