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

1–12 of 143 variants

22 papers

NM_001146.5

p.A119S

c.355G>T

7 papers

NM_001146.5

p.Q370H

c.1110G>T

7 papers

NM_001146.5

p.Q370H

c.1110G>C

6 papers

NM_001146.5

p.A8V

c.23C>T

5 papers

NM_001146.5

p.R494*

c.1480C>T

3 papers

NM_001146.5

p.Q236*

c.706C>T

3 papers

NM_001146.5

p.K249R

c.746A>G

3 papers

NM_001146.5

p.R384Q

c.1151G>A

2 papers

NM_001146.5

p.C54S

c.160T>A

2 papers

NM_001146.5

p.C54S

c.161G>C

2 papers

NM_001146.5

p.Q116*

c.346C>T

2 papers

NM_001146.5

p.K186N

c.558G>T