Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31Splc

HBB

2,580 papers

RefSeq Summary

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two be...

Pfam Domains

Globinaa 26–142UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit beta

HGNC Alias Symbols

CD113t-C; beta-globin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_000518.5
p.R31Splc
c.93-2A>C
Surrounding Variants
1 paper
NM_000518.5
p.R31Splc
c.93-2A>T
13 papers
NM_000518.5
p.R31Splc
c.93-2A>G
23 papers
NM_000518.5
p.R31Splc
c.93-3T>G
2 papers
NM_000518.5
p.R31Splc
c.93-3T>C
220 papers
NM_000518.5
p.R31Splc
c.93-1G>T
74 papers
NM_000518.5
p.R31Splc
c.93-1G>C
274 papers
NM_000518.5
p.R31Splc
c.93-1G>A
13 papers
NM_000518.5
p.R31S
c.93G>T
1 paper
NM_000518.5
p.R31_L32ins1
c.93_94insCGG
24 papers
NM_000518.5
p.R31S
c.93G>C
2 papers
NM_000518.5
p.R31R
c.93G>A
2 papers
NM_000518.5
p.L32fs
c.94_95fs
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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."