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

2 papers

NM_001146.5

p.R494Q

c.1481G>A

Surrounding Variants

5 papers

NM_001146.5

p.R494*

c.1480C>T

1 paper

NM_001146.5

p.M492L

c.1474A>T

1 paper

NM_001146.5

p.M492L

c.1474A>C

1 paper

NM_001146.5

p.H477Q

c.1431C>G

1 paper

NM_001146.5

p.W476delFs

c.1428delC

1 paper

NM_001146.5

p.I474M

c.1422A>G

1 paper

NM_001146.5

p.N472Y

c.1414A>T

1 paper

NM_001146.5

p.Q466*

c.1396C>T

1 paper

NM_001146.5

p.S455F

c.1364C>T

1 paper

NM_001146.5

p.A451_C452delFs

c.1353_1354delAA

1 paper

NM_001146.5

p.A451D

c.1352C>A

1 paper

NM_001146.5

p.W448insFs

c.1343_1344ins4