Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C363fs

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.C363fs
c.1087_1088fs
Surrounding Variants
1 paper
NM_001114753.3
p.C363W
c.1089T>G
5 papers
NM_001114753.3
p.C363S
c.1088G>C
12 papers
NM_001114753.3
p.C363Y
c.1088G>A
2 papers
NM_001114753.3
p.C363R
c.1087T>C
5 papers
NM_001114753.3
p.C363S
c.1087T>A
3 papers
NM_001114753.3
p.C363_A364delFs
c.1089_1090delCA
3 papers
NM_001114753.3
p.K362insFs
c.1085_1086insA
1 paper
NM_001114753.3
p.K362delFs
c.1084_1085delTT
1 paper
NM_001114753.3
p.Q360_A364delFs
c.1078_1090del13
8 papers
NM_001114753.3
p.Q360_T361delFs
c.1080_1083del4
2 papers
NM_001114753.3
p.D365D
c.1095C>T
24 papers
NM_001114753.3
p.D366H
c.1096G>C
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