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

2 papers

NM_001530.4

p.D74H

c.220G>C

Surrounding Variants

1 paper

NM_001530.4

p.L73L

c.217C>T

1 paper

NM_001530.4

p.A75T

c.223G>A

1 paper

NM_001530.4

p.K71delFs

c.213delA

1 paper

NM_001530.4

p.R68L

c.203G>T

1 paper

NM_001530.4

p.L67F

c.201G>C

2 papers

NM_001243084.2

p.L91F

c.273G>T

NM_001530.4

p.L67F

c.201G>T

1 paper

NM_001530.4

p.S65T

c.194G>C

1 paper

NM_001530.4

p.S65C

c.193A>T

1 paper

NM_001530.4

p.I64M

c.192C>G

6 papers

NM_001530.4

p.I64T

c.191T>C

1 paper

NM_001530.4

p.T63T

c.189C>A

1 paper

NM_001530.4

p.R61W

c.181A>T