Varaico: Literature-Extracted Genetic Variants

Gene:HBQ1
Variant:p.A13P

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
1 paper
NM_005331.5
p.A13P
c.37G>C
Surrounding Variants
1 paper
NM_005331.5
p.A5V
c.14C>T
1 paper
NM_005331.5
p.L3L
c.9G>C
1 paper
NM_005331.5
p.A2G
c.5C>G
1 paper
NM_005331.5
p.T26T
c.78G>A
2 papers
NM_005331.5
p.E31E
c.93A>G
1 paper
NM_005331.5
p.R32Splc
c.95+26C>A
1 paper
NM_005331.5
p.R32Splc
c.95+38C>T
1 paper
NM_005331.5
p.R32Splc
c.96-1G>T
3 papers
NM_005331.5
p.G52A
c.155G>C
1 paper
NM_005331.5
p.D65H
c.193G>C
1 paper
NM_005331.5
p.P78T
c.232C>A
1 paper
NM_005331.5
p.A80V
c.239C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."