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_001243084.2

p.V74L

c.220G>C

NM_001530.4

p.V50L

c.148G>C

Surrounding Variants

2 papers

NM_001243084.2

p.V74L

c.220G>T

NM_001530.4

p.V50L

c.148G>T

1 paper

NM_001530.4

p.N49I

c.146A>T

1 paper

NM_001530.4

p.S51S

c.153T>C

2 papers

NM_001530.4

p.P47P

c.141A>C

1 paper

NM_001530.4

p.S52*

c.155C>A

1 paper

NM_001530.4

p.S52L

c.155C>T

2 papers

NM_001530.4

p.L54I

c.160C>A

2 papers

NM_001530.4

p.L54F

c.160C>T

1 paper

NM_001530.4

p.P45P

c.135A>T

1 paper

NM_001530.4

p.L46_L54del0

c.138_161del24

1 paper

NM_001530.4

p.D55N

c.163G>A

1 paper

NM_001530.4

p.D55Y

c.163G>T