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.T620_L624del5

c.1858_1871del15

Surrounding Variants

1 paper

NM_001530.4

p.A619P

c.1855G>C

1 paper

NM_001530.4

p.L624F

c.1872A>T

1 paper

NM_001530.4

p.A614P

c.1840G>C

2 papers

NM_001530.4

p.A612T

c.1834G>A

2 papers

NM_001243084.2

p.R655H

c.1964G>A

NM_001530.4

p.R631H

c.1892G>A

1 paper

NM_001530.4

p.M632I

c.1896G>A

4 papers

NM_001530.4

p.Q606*

c.1816C>T

1 paper

NM_001530.4

p.Q604Q

c.1812G>A

3 papers

NM_001530.4

p.T600T

c.1800A>T

1 paper

NM_001530.4

p.I639M

c.1917T>G

1 paper

NM_001530.4

p.A640T

c.1918G>A

3 papers

NM_001530.4

p.S641A

c.1921T>G