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

2 papers

NM_001430.5

p.K349del1

c.1045_1046delAAG

Surrounding Variants

2 papers

NM_001430.5

p.E348K

c.1042G>A

1 paper

NM_001430.5

p.E348_V352del5

c.1042_1055del15

1 paper

NM_001430.5

p.K349R

c.1046A>G

1 paper

NM_001430.5

p.S345Splc

c.1035-6C>G

2 papers

NM_001430.5

p.S345Splc

c.1035-7C>G

1 paper

NM_001430.5

p.V353L

c.1057G>C

1 paper

NM_001430.5

p.V353L

c.1057G>T

2 papers

NM_001430.5

p.S355F

c.1064C>T

1 paper

NM_001430.5

p.D357Y

c.1069G>T

1 paper

NM_001430.5

p.L362L

c.1084C>T

1 paper

NM_001430.5

p.K364fs

c.1090_1091fs

1 paper

NM_001430.5

p.K364insFs

c.1091_1092insT