Varaico: Literature-Extracted Genetic Variants

Gene:HBM
Variant:p.R31Splc

HBM

28 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'. This gene has an OR...

Pfam Domains

Globinaa 26–136UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit mu

HGNC Previous Symbol

HBAP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003938.4
p.R31Splc
c.93-36C>T
Surrounding Variants
1 paper
NM_001003938.4
p.F33V
c.97T>G
1 paper
NM_001003938.4
p.P37S
c.109C>T
1 paper
NM_001003938.4
p.T39T
c.117C>A
1 paper
NM_001003938.4
p.A65V
c.194C>T
1 paper
NM_001003938.4
p.P99T
c.295C>A
1 paper
NM_001003938.4
p.L100P
c.299T>C
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