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.P72T

c.214C>A

Surrounding Variants

1 paper

NM_001146.5

p.L67L

c.199C>T

1 paper

NM_001146.5

p.A66insFs

c.197dupC

1 paper

NM_001146.5

p.A66V

c.197C>T

1 paper

NM_001146.5

p.N65delFs

c.195delG

1 paper

NM_001146.5

p.Q81*

c.241C>T

1 paper

NM_001146.5

p.Q81R

c.242A>G

1 paper

NM_001146.5

p.T58_Q61delFs

c.172_181del10

1 paper

NM_001146.5

p.S57G

c.169A>G

1 paper

NM_001146.5

p.R55C

c.163C>T

2 papers

NM_001146.5

p.C54S

c.161G>C

2 papers

NM_001146.5

p.C54S

c.160T>A

1 paper

NM_001146.5

p.T94S

c.280A>T