Varaico: Literature-Extracted Genetic Variants

Gene:HBZ
Variant:p.W15_A16insFs

HBZ

66 papers

RefSeq Summary

Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin...

Pfam Domains

Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit zeta

HGNC Alias Symbols

HBZ1; HBZ-T1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005332.3
p.W15_A16insFs
c.45_46insG
Surrounding Variants
1 paper
NM_005332.3
p.K17T
c.50A>C
1 paper
NM_005332.3
p.I18F
c.52A>T
1 paper
NM_005332.3
p.T20A
c.58A>G
1 paper
NM_005332.3
p.T20M
c.59C>T
1 paper
NM_005332.3
p.R8G
c.22A>G
1 paper
NM_005332.3
p.E7*
c.19G>T
1 paper
NM_005332.3
p.L3L
c.9G>C
1 paper
NM_005332.3
p.G26G
c.78C>A
1 paper
NM_005332.3
p.T27A
c.79A>G
1 paper
NM_005332.3
p.S2S
c.6T>C
1 paper
NM_005332.3
p.E28_T29insFs
c.84_85insC
1 paper
NM_005332.3
p.R32Splc
c.95+9C>T
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