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.E360K

c.1078G>A

Surrounding Variants

1 paper

NM_001146.5

p.G358R

c.1072G>C

1 paper

NM_001146.5

p.G358R

c.1072G>A

1 paper

NM_001146.5

p.P351delFs

c.1051delG

1 paper

NM_001146.5

p.Q368delFs

c.1104delC

1 paper

NM_001146.5

p.N350K

c.1050T>G

1 paper

NM_001146.5

p.N350K

c.1050T>A

1 paper

NM_001146.5

p.R369delFs

c.1106delC

7 papers

NM_001146.5

p.Q370H

c.1110G>T

7 papers

NM_001146.5

p.Q370H

c.1110G>C

1 paper

NM_001146.5

p.M346_G347Splc

c.1039-4C>A

3 papers

NM_001146.5

p.R384Q

c.1151G>A

1 paper

NM_001146.5

p.Q388R

c.1163A>G