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

1 paper

NM_001530.4

p.L478L

c.1432T>C

Surrounding Variants

4 papers

NM_001530.4

p.A475S

c.1423G>T

1 paper

NM_001530.4

p.E483Q

c.1447G>C

1 paper

NM_001530.4

p.Q472H

c.1416A>C

1 paper

NM_001530.4

p.E483G

c.1448A>G

1 paper

NM_001530.4

p.Q472H

c.1416A>T

1 paper

NM_001530.4

p.P468S

c.1402C>T

1 paper

NM_001530.4

p.P492S

c.1474C>T

1 paper

NM_001530.4

p.L462F

c.1384C>T

1 paper

NM_001530.4

p.Q497E

c.1489C>G

1 paper

NM_001530.4

p.T458M

c.1373C>T

1 paper

NM_001530.4

p.Q497H

c.1491G>C

1 paper

NM_001530.4

p.Q497H

c.1491G>T