Varaico: Literature-Extracted Genetic Variants

ANGPT1

147 papers

RefSeq Summary

This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with sim...

Pfam Domains

ANG-1aa 1–66UCSCANG-1-like domain

Fibrinogen_Caa 82–296UCSCFibrinogen beta and gamma chains, C-terminal globular domain

ANG-1aa 162–266UCSCANG-1-like domain

Gene Aliases

HGNC Name

angiopoietin 1

HGNC Alias Symbols

KIAA0003; Ang1; AGPT-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001146.5

p.T2insFs

c.4_5insT

Surrounding Variants

1 paper

NM_001146.5

p.M1delFs

c.2delA

1 paper

NM_001146.5

p.S6F

c.17C>T

6 papers

NM_001146.5

p.A8V

c.23C>T

1 paper

NM_001146.5

p.T15T

c.45T>A

1 paper

NM_001146.5

p.H16Y

c.46C>T

1 paper

NM_001146.5

p.R24*

c.70C>T

1 paper

NM_001146.5

p.S29G

c.85A>G

1 paper

NM_001146.5

p.S29R

c.85A>C

1 paper

NM_001146.5

p.S29R

c.87T>G

1 paper

NM_001146.5

p.S29R

c.87T>A

1 paper

NM_001146.5

p.R31K

c.92G>A

1 paper

NM_001146.5

p.Y33_G39delFs

c.97_115del19