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

3 papers

NM_001430.5

p.R550Q

c.1649G>A

Surrounding Variants

1 paper

NM_001430.5

p.R550L

c.1649G>T

1 paper

NM_001430.5

p.R550W

c.1648C>T

1 paper

NM_001430.5

p.L552delFs

c.1655delT

1 paper

NM_001430.5

p.E549K

c.1645G>A

1 paper

NM_001430.5

p.A553insFs

c.1657dupG

2 papers

NM_001430.5

p.E548K

c.1642G>A

3 papers

NM_001430.5

p.A553fs

c.1657_1658fs

1 paper

NM_001430.5

p.C546*

c.1638C>A

1 paper

NM_001430.5

p.I545M

c.1635C>G

1 paper

NM_001430.5

p.I545T

c.1634T>C

1 paper

NM_001430.5

p.P556A

c.1666C>G

3 papers

NM_001430.5

p.P544R

c.1631C>G