Varaico: Literature-Extracted Genetic Variants

HIF1A

975 papers

RefSeq Summary

This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of...

Pfam Domains

bHLH_HIF1Aaa 1–80UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 91–186UCSCPAS fold

PAS_3aa 252–339UCSCPAS fold

HIF-1aa 551–581UCSCHypoxia-inducible factor-1

HIF-1a_CTADaa 789–825UCSCHIF-1 alpha C terminal transactivation domain

Gene Aliases

HGNC Name

hypoxia inducible factor 1 subunit alpha

HGNC Alias Symbols

MOP1; HIF-1alpha; PASD8; HIF1; bHLHe78

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001530.4

p.R273H

c.818G>A

Surrounding Variants

6 papers

NM_001530.4

p.R273C

c.817C>T

1 paper

NM_001530.4

p.G272A

c.815G>C

1 paper

NM_001243084.2

p.L295S

c.884T>C

1 paper

NM_001530.4

p.I275_Y276insFs

c.825_826insA

1 paper

NM_001530.4

p.E268D

c.804A>C

1 paper

NM_001530.4

p.E268*

c.802G>T

1 paper

NM_001243084.2

p.Y302Y

c.906T>C

4 papers

NM_001530.4

p.P267Q

c.800C>A

1 paper

NM_001530.4

p.H280N

c.838C>A

1 paper

NM_001530.4

p.H280_A281insFs

c.840_841insA

1 paper

NM_001530.4

p.G264V

c.791G>T

1 paper

NM_001530.4

p.G264R

c.790G>A