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

3 papers

NM_001530.4

p.A694T

c.2080G>A

Surrounding Variants

1 paper

NM_001243084.2

p.S716C

c.2147C>G

3 papers

NM_001530.4

p.Q697E

c.2089C>G

1 paper

NM_001530.4

p.V690M

c.2068G>A

1 paper

NM_001530.4

p.N689I

c.2066A>T

1 paper

NM_001530.4

p.T680T

c.2040A>G

3 papers

NM_001530.4

p.Q679E

c.2035C>G

12 papers

NM_001530.4

p.V676V

c.2028C>T

1 paper

NM_001530.4

p.K674N

c.2022A>C

1 paper

NM_001530.4

p.K674N

c.2022A>T

1 paper

NM_001530.4

p.K674R

c.2021A>G

1 paper

NM_001530.4

p.T666K

c.1997C>A

1 paper

NM_001243084.2

p.R689Q

c.2066G>A