Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.K374N

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.K374N
c.1122A>T
Surrounding Variants
1 paper
NM_001114753.3
p.K374N
c.1122A>C
2 papers
NM_001114753.3
p.E375*
c.1123G>T
3 papers
NM_001114753.3
p.K374_E375insFs
c.1122_1123insA
2 papers
NM_001114753.3
p.D366_K373delFs
c.1097_1119del23
2 papers
NM_001114753.3
p.E375G
c.1124A>G
2 papers
NM_001114753.3
p.K373fs
c.1117_1118fs
1 paper
NM_001114753.3
p.E375fs
c.1123_1124fs
2 papers
NM_001114753.3
p.K374_E375delFs
c.1121_1124del4
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
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