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

62 papers

NM_001530.4

p.P564A

c.1690C>G

Surrounding Variants

1 paper

NM_001530.4

p.P564L

c.1691C>T

1 paper

NM_001530.4

p.A563G

c.1688C>G

2 papers

NM_001530.4

p.P564P

c.1692C>T

1 paper

NM_001530.4

p.A563S

c.1687G>T

1 paper

NM_001530.4

p.Y565F

c.1694A>T

1 paper

NM_001530.4

p.L562V

c.1684T>G

2 papers

NM_001530.4

p.M561T

c.1682T>C

1 paper

NM_001530.4

p.P567T

c.1699C>A

1 paper

NM_001530.4

p.E560Q

c.1678G>C

1 paper

NM_001530.4

p.D569N

c.1705G>A

1 paper

NM_001530.4

p.L559V

c.1675T>G

3 papers

NM_001530.4

p.D569A

c.1706A>C