Varaico: Literature-Extracted Genetic Variants

Gene:HBZ
Variant:p.R32Splc

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
2 papers
NM_005332.3
p.R32Splc
c.96-1G>A
Surrounding Variants
1 paper
NM_005332.3
p.R32Splc
c.96-1G>T
1 paper
NM_005332.3
p.P38P
c.114G>T
1 paper
NM_005332.3
p.P45_H46insG
c.133_137ins3
1 paper
NM_005332.3
p.P45L
c.134C>T
1 paper
NM_005332.3
p.G52fs
c.154_155fs
3 papers
NM_005332.3
p.G52insFs
c.155_156ins4
1 paper
NM_005332.3
p.A54fs
c.160_161fs
1 paper
NM_005332.3
p.K72_S73insFs
c.216_217insA
1 paper
NM_005332.3
p.L84_S85insC
c.250_254ins3
1 paper
NM_005332.3
p.K100_L101Splc
c.301-142G>A
1 paper
NM_005332.3
p.K100_L101Splc
c.301-1G>A
1 paper
NM_005332.3
p.A116_F118del0
c.346_354del9
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