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.P397S

c.1189C>T

Surrounding Variants

1 paper

NM_001430.5

p.P397fs

c.1189_1190fs

1 paper

NM_001430.5

p.P397L

c.1190C>T

1 paper

NM_001430.5

p.E398K

c.1192G>A

1 paper

NM_001430.5

p.K394T

c.1181A>C

1 paper

NM_001430.5

p.T391A

c.1171A>G

1 paper

NM_001430.5

p.L403P

c.1208T>C

10 papers

NM_001430.5

p.P405A

c.1213C>G

1 paper

NM_001430.5

p.P405S

c.1213C>T

1 paper

NM_001430.5

p.P405L

c.1214C>T

1 paper

NM_001430.5

p.T406T

c.1218C>G

1 paper

NM_001430.5

p.P407Q

c.1220C>A

1 paper

NM_001430.5

p.P407R

c.1220C>G