Varaico: Literature-Extracted Genetic Variants

EPAS1

566 papers

RefSeq Summary

This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain pr...

Pfam Domains

bHLH_HIF1Aaa 1–73UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 86–183UCSCPAS fold

PAS_11aa 241–349UCSCPAS domain

HIF-1aa 517–549UCSCHypoxia-inducible factor-1

HIF-1a_CTADaa 833–869UCSCHIF-1 alpha C terminal transactivation domain

Gene Aliases

HGNC Name

endothelial PAS domain protein 1

HGNC Alias Symbols

MOP2; PASD2; HIF2A; bHLHe73

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001430.5

p.P556A

c.1666C>G

Surrounding Variants

2 papers

NM_001430.5

p.Q557*

c.1669C>T

1 paper

NM_001430.5

p.Q557H

c.1671G>C

1 paper

NM_001430.5

p.Q557H

c.1671G>T

2 papers

NM_001430.5

p.Q561delFs

c.1681delC

3 papers

NM_001430.5

p.A553fs

c.1657_1658fs

1 paper

NM_001430.5

p.A553insFs

c.1657dupG

1 paper

NM_001430.5

p.P560H

c.1679C>A

1 paper

NM_001430.5

p.L552delFs

c.1655delT

3 papers

NM_001430.5

p.Q561K

c.1681C>A

1 paper

NM_001430.5

p.Q561*

c.1681C>T

2 papers

NM_001430.5

p.Q561fs

c.1681_1682fs

3 papers

NM_001430.5

p.R550Q

c.1649G>A