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

3 papers

NM_001146.5

p.Q236*

c.706C>T

Surrounding Variants

1 paper

NM_001146.5

p.L233L

c.697C>T

1 paper

NM_001146.5

p.A240T

c.718G>A

1 paper

NM_001146.5

p.E232K

c.694G>A

1 paper

NM_001146.5

p.I230T

c.689T>C

1 paper

NM_001146.5

p.S245_V246insFs

c.733_736dup4

2 papers

NM_001146.5

p.R225C

c.673C>T

3 papers

NM_001146.5

p.K249R

c.746A>G

1 paper

NM_001146.5

p.Q250delFs

c.748_749delTG

1 paper

NM_001146.5

p.E214K

c.640G>A

1 paper

NM_001146.5

p.L212insFs

c.635dupT

1 paper

NM_001146.5

p.H259_L261delFs

c.776_782del7

1 paper

NM_001146.5

p.V262A

c.785T>C