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.L134L

c.402C>T

Surrounding Variants

1 paper

NM_001146.5

p.S136F

c.407C>T

1 paper

NM_001146.5

p.Q141H

c.423G>T

1 paper

NM_001146.5

p.Q141H

c.423G>C

1 paper

NM_001146.5

p.L145P

c.434T>C

1 paper

NM_001146.5

p.D147E

c.441T>A

1 paper

NM_001146.5

p.E149D

c.447G>C

22 papers

NM_001146.5

p.A119S

c.355G>T

1 paper

NM_001146.5

p.Q117delFs

c.351delC

2 papers

NM_001146.5

p.Q116*

c.346C>T

1 paper

NM_001146.5

p.K109R

c.326A>G

1 paper

NM_001146.5

p.V105_E106insFs

c.314_317dup4

1 paper

NM_001146.5

p.L100_E101ins0

c.298_303dup6