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.L178P

c.533T>C

Surrounding Variants

1 paper

NM_001146.5

p.L178F

c.532C>T

1 paper

NM_001146.5

p.Q176H

c.528A>T

1 paper

NM_001146.5

p.K172_T181del10

c.514_542del30

1 paper

NM_001146.5

p.E183K

c.547G>A

1 paper

NM_001146.5

p.L173P

c.518T>C

1 paper

NM_001146.5

p.L185delFs

c.553delA

1 paper

NM_001146.5

p.L185ins4

c.554_555ins12

2 papers

NM_001146.5

p.K186N

c.558G>T

2 papers

NM_001146.5

p.K186N

c.558G>C

1 paper

NM_001146.5

p.N191fs

c.571_572fs

1 paper

NM_001146.5

p.N191insFs

c.572dupA