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.A396G

c.1187C>G

Surrounding Variants

1 paper

NM_001530.4

p.A396_L397delins

c.1187_1189delinsATT

1 paper

NM_001530.4

p.A396T

c.1186G>A

1 paper

NM_001530.4

p.K391R

c.1172A>G

71 papers

NM_001530.4

p.P402A

c.1204C>G

1 paper

NM_001530.4

p.P402P

c.1206A>T

1 paper

NM_001530.4

p.K389insFs

c.1167dupA

1 paper

NM_001530.4

p.A404T

c.1210G>A

1 paper

NM_001530.4

p.L386V

c.1156C>G

1 paper

NM_001243084.2

p.T431I

c.1292C>T

3 papers

NM_001530.4

p.S385N

c.1154G>A

1 paper

NM_001530.4

p.T383T

c.1149A>G

1 paper

NM_001530.4

p.D412D

c.1236T>C