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

1–12 of 48 variants

2 papers

NM_152795.4

p.Q6P

c.17A>C

2 papers

NM_152795.4

p.L90L

c.270G>A

2 papers

NM_152795.4

p.R238Q

c.713G>A

2 papers

NM_152795.4

p.S445L

c.1334C>T

1 paper

NM_152795.4

p.K16*

c.46A>T

1 paper

NM_152795.4

p.E17K

c.49G>A

1 paper

NM_152795.4

p.V33A

c.98T>C

1 paper

NM_152795.4

p.L69F

c.205C>T

1 paper

NM_022462.4

p.I64L

c.190A>C

1 paper

NM_152795.4

p.I133L

c.397A>C

1 paper

NM_152795.4

p.E140*

c.418G>T

1 paper

NM_152795.4

p.E140D

c.420G>C