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.E527D

c.1581G>T

Surrounding Variants

1 paper

NM_001430.5

p.E527D

c.1581G>C

1 paper

NM_001430.5

p.E527K

c.1579G>A

1 paper

NM_001430.5

p.L526L

c.1578G>A

3 papers

NM_001430.5

p.L526F

c.1578G>C

3 papers

NM_001430.5

p.L526F

c.1578G>T

1 paper

NM_001430.5

p.E527delFs

c.1579delG

17 papers

NM_001430.5

p.L529P

c.1586T>C

3 papers

NM_001430.5

p.D525G

c.1574A>G

29 papers

NM_001430.5

p.A530T

c.1588G>A

2 papers

NM_001430.5

p.A530P

c.1588G>C

3 papers

NM_001430.5

p.A530S

c.1588G>T

11 papers

NM_001430.5

p.A530E

c.1589C>A