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.P365A

c.1093C>G

Surrounding Variants

1 paper

NM_001430.5

p.P365T

c.1093C>A

1 paper

NM_001430.5

p.K364insFs

c.1091_1092insT

3 papers

NM_001430.5

p.K364M

c.1091A>T

1 paper

NM_001430.5

p.K364fs

c.1090_1091fs

1 paper

NM_001430.5

p.L367M

c.1099C>A

1 paper

NM_001430.5

p.L362L

c.1084C>T

6 papers

NM_001430.5

p.M368I

c.1104G>A

6 papers

NM_001430.5

p.M368I

c.1104G>C

6 papers

NM_001430.5

p.M368I

c.1104G>T

1 paper

NM_001430.5

p.A369P

c.1105G>C

1 paper

NM_001430.5

p.M370_K385del0

c.1110_1154del45

1 paper

NM_001430.5

p.S372N

c.1115G>A