Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.P38del1

HBA1

827 papers

RefSeq Summary

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) ...

Gene Aliases

HGNC Name

hemoglobin subunit alpha 1

HGNC Alias Symbol

HBA-T3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000558.5
p.P38del1
c.112_114delCCC
Surrounding Variants
1 paper
NM_000558.5
p.F37Y
c.110T>A
1 paper
NM_000558.5
p.F37S
c.110T>C
2 papers
NM_000558.5
p.P38delFs
c.114delC
1 paper
NM_000558.5
p.F37V
c.109T>G
16 papers
NM_000558.5
p.T40_K41del1
c.119_121delCCA
2 papers
NM_000558.5
p.P38R
c.113C>G
2 papers
NM_000558.5
p.P38_T39ins1
c.114_115insGAA
1 paper
NM_000558.5
p.T40_T42del0
c.118_126del9
1 paper
NM_000558.5
p.S36P
c.106T>C
1 paper
NM_000558.5
p.T39S
c.115A>T
1 paper
NM_000558.5
p.T39fs
c.115_116fs
1 paper
NM_000558.5
p.L35_S36insFs
c.105_106insT
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."