Varaico: Literature-Extracted Genetic Variants

Gene:HBQ1
Variant:p.G52A

HBQ1

49 papers

RefSeq Summary

Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime bef...

Pfam Domains

Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit theta 1

HGNC Previous Name

hemoglobin, theta 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005331.5
p.G52A
c.155G>C
Surrounding Variants
1 paper
NM_005331.5
p.D65H
c.193G>C
1 paper
NM_005331.5
p.R32Splc
c.96-1G>T
1 paper
NM_005331.5
p.P78T
c.232C>A
1 paper
NM_005331.5
p.A80V
c.239C>T
1 paper
NM_005331.5
p.L81V
c.241C>G
1 paper
NM_005331.5
p.A83V
c.248C>T
1 paper
NM_005331.5
p.R32Splc
c.95+38C>T
1 paper
NM_005331.5
p.C90Y
c.269G>A
1 paper
NM_005331.5
p.R32Splc
c.95+26C>A
2 papers
NM_005331.5
p.E31E
c.93A>G
1 paper
NM_005331.5
p.T26T
c.78G>A
1 paper
NM_005331.5
p.Q100_L101Splc
c.301-55T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."