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.R30Q

c.89G>A

Surrounding Variants

1 paper

NM_001530.4

p.R30R

c.90A>G

1 paper

NM_001530.4

p.R30R

c.88C>A

5 papers

NM_001530.4

p.R29W

c.85C>T

4 papers

NM_001530.4

p.S28Y

c.83C>A

1 paper

NM_001530.4

p.S28C

c.83C>G

1 paper

NM_001530.4

p.S28F

c.83C>T

1 paper

NM_001530.4

p.S34T

c.100T>A

1 paper

NM_001530.4

p.S34F

c.101C>T

1 paper

NM_001530.4

p.E35E

c.105A>G

1 paper

NM_001530.4

p.A25S

c.73G>T

1 paper

NM_001530.4

p.V36I

c.106G>A

1 paper

NM_001530.4

p.D24A

c.71A>C