Varaico: Literature-Extracted Genetic Variants

HIF3A

59 papers

RefSeq Summary

The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). ...

Pfam Domains

bHLH_HIF1Aaa 4–77UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 89–177UCSCPAS fold

PAS_11aa 239–346UCSCPAS domain

HIF-1aa 478–509UCSCHypoxia-inducible factor-1

Gene Aliases

HGNC Name

hypoxia inducible factor 3 subunit alpha

HGNC Alias Symbols

IPAS; MOP7; PASD7; bHLHe17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_152795.4

p.S445L

c.1334C>T

Surrounding Variants

1 paper

NM_152795.4

p.E399K

c.1195G>A

1 paper

NM_152795.4

p.L389F

c.1165C>T

2 papers

NM_022462.4

p.A299D

c.896C>A

NM_152795.4

p.A368D

c.1103C>A

1 paper

NM_152794.4

p.K465R

c.1394A>G

1 paper

NM_152795.4

p.S342Splc

c.1026-3361A>G

1 paper

NM_152794.4

p.P490A

c.1468C>G

1 paper

NM_152795.4

p.Y493F

c.1478A>T

1 paper

NM_152795.4

p.R514_P515insFs

c.1542_1543insG

1 paper

NM_152795.4

p.V519V

c.1557C>A

1 paper

NM_152795.4

p.D558N

c.1672G>A

1 paper

NM_022462.4

p.P490A

c.1468C>G

1 paper

NM_152795.4

p.P564A

c.1690C>G