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

4 papers

NM_001530.4

p.Q606*

c.1816C>T

Surrounding Variants

1 paper

NM_001530.4

p.Q604Q

c.1812G>A

3 papers

NM_001530.4

p.T600T

c.1800A>T

2 papers

NM_001530.4

p.A612T

c.1834G>A

1 paper

NM_001530.4

p.A614P

c.1840G>C

93 papers

NM_001530.4

p.S597N

c.1790G>A

1 paper

NM_001530.4

p.S597I

c.1790G>T

1 paper

NM_001530.4

p.S597C

c.1789A>T

2 papers

NM_001530.4

p.A593P

c.1777G>C

1 paper

NM_001530.4

p.A619P

c.1855G>C

1 paper

NM_001530.4

p.T620_L624del5

c.1858_1871del15

2 papers

NM_001530.4

p.E591A

c.1772A>C

1 paper

NM_001530.4

p.S589N

c.1766G>A