Varaico: Literature-Extracted Genetic Variants

Gene:AHSP
Variant:p.M45K

AHSP

49 papers

RefSeq Summary

This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been tran...

Pfam Domains

AHSPaa 5–91UCSCAlpha-haemoglobin stabilising protein

Gene Aliases

HGNC Name

alpha hemoglobin stabilizing protein

HGNC Previous Symbol

ERAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_016633.4
p.M45K
c.134T>A
Surrounding Variants
1 paper
NM_016633.4
p.E42V
c.125A>T
1 paper
NM_016633.4
p.I49S
c.146T>G
1 paper
NM_016633.4
p.V41L
c.121G>C
1 paper
NM_016633.4
p.V41L
c.121G>T
1 paper
NM_016633.4
p.T39N
c.116C>A
1 paper
NM_016633.4
p.V38V
c.114G>A
12 papers
NM_016633.4
p.V56G
c.167T>G
1 paper
NM_016633.4
p.V56V
c.168G>T
1 paper
NM_016633.4
p.V32I
c.94G>A
9 papers
NM_016633.4
p.P30A
c.88C>G
1 paper
NM_016633.4
p.D29A
c.86A>C
4 papers
NM_016633.4
p.D29V
c.86A>T
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