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.V382delFs

c.1145delT

Surrounding Variants

1 paper

NM_001430.5

p.V382fs

c.1144_1145fs

1 paper

NM_001430.5

p.A381T

c.1141G>A

1 paper

NM_001430.5

p.A381fs

c.1141_1142fs

1 paper

NM_001430.5

p.K379delFs

c.1137delG

1 paper

NM_001430.5

p.K379insFs

c.1135_1136insT

1 paper

NM_001430.5

p.K385Q

c.1153A>C

1 paper

NM_001430.5

p.K379E

c.1135A>G

1 paper

NM_001430.5

p.K379fs

c.1135_1136fs

1 paper

NM_001430.5

p.S386N

c.1157G>A

1 paper

NM_001430.5

p.S386I

c.1157G>T

1 paper

NM_001430.5

p.S377C

c.1129A>T

1 paper

NM_001430.5

p.F374L

c.1122T>A