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

19 papers

NM_001430.5

p.P531A

c.1591C>G

Surrounding Variants

7 papers

NM_001430.5

p.P531T

c.1591C>A

38 papers

NM_001430.5

p.P531S

c.1591C>T

4 papers

NM_001430.5

p.P531H

c.1592C>A

7 papers

NM_001430.5

p.P531R

c.1592C>G

18 papers

NM_001430.5

p.P531L

c.1592C>T

11 papers

NM_001430.5

p.A530E

c.1589C>A

41 papers

NM_001430.5

p.A530V

c.1589C>T

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

1 paper

NM_001430.5

p.Y532N

c.1594T>A

5 papers

NM_001430.5

p.Y532H

c.1594T>C