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.R18G

c.52C>G

Surrounding Variants

1 paper

NM_001530.4

p.K19Q

c.55A>C

1 paper

NM_001530.4

p.R17G

c.49C>G

1 paper

NM_001530.4

p.K19T

c.56A>C

1 paper

NM_001530.4

p.K19K

c.57A>G

1 paper

NM_001530.4

p.E20K

c.58G>A

3 papers

NM_001530.4

p.S15S

c.45T>C

1 paper

NM_001530.4

p.K21Q

c.61A>C

1 paper

NM_001530.4

p.S14R

c.42T>A

2 papers

NM_001530.4

p.S22A

c.64T>G

1 paper

NM_001530.4

p.I13L

c.37A>C

1 paper

NM_001530.4

p.I13L

c.37A>T

2 papers

NM_001530.4

p.D24H

c.70G>C