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

1–12 of 430 variants

182 papers

NM_001530.4

p.P582S

c.1744C>T

93 papers

NM_001530.4

p.S597N

c.1790G>A

85 papers

NM_001530.4

p.A588T

c.1762G>A

71 papers

NM_001530.4

p.P402A

c.1204C>G

62 papers

NM_001530.4

p.P564A

c.1690C>G

12 papers

NM_001530.4

p.V676V

c.2028C>T

7 papers

NM_001530.4

p.T418I

c.1253C>T

6 papers

NM_001530.4

p.I64T

c.191T>C

6 papers

NM_001530.4

p.R273C

c.817C>T

5 papers

NM_001530.4

p.R29W

c.85C>T

5 papers

NM_001530.4

p.R273H

c.818G>A

5 papers

NM_001530.4

p.K532R

c.1595A>G