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.F540C

c.1619T>G

Surrounding Variants

18 papers

NM_001430.5

p.F540L

c.1620C>A

19 papers

NM_001430.5

p.F540L

c.1620C>G

17 papers

NM_001430.5

p.F540L

c.1618T>C

11 papers

NM_001430.5

p.D539E

c.1617C>A

12 papers

NM_001430.5

p.D539E

c.1617C>G

2 papers

NM_001430.5

p.D539G

c.1616A>G

19 papers

NM_001430.5

p.D539N

c.1615G>A

2 papers

NM_001430.5

p.Q541H

c.1623G>C

1 paper

NM_001430.5

p.D539H

c.1615G>C

8 papers

NM_001430.5

p.D539Y

c.1615G>T

2 papers

NM_001430.5

p.Q541H

c.1623G>T

1 paper

NM_001430.5

p.L542V

c.1624C>G