Varaico: Literature-Extracted Genetic Variants

Gene:AHSP
Variant:p.V56G

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
12 papers
NM_016633.4
p.V56G
c.167T>G
Surrounding Variants
1 paper
NM_016633.4
p.V56V
c.168G>T
1 paper
NM_016633.4
p.I49S
c.146T>G
1 paper
NM_016633.4
p.K65M
c.194A>T
4 papers
NM_016633.4
p.M45K
c.134T>A
1 paper
NM_016633.4
p.E42V
c.125A>T
1 paper
NM_016633.4
p.R71W
c.211C>T
1 paper
NM_016633.4
p.R71Q
c.212G>A
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
11 papers
NM_016633.4
p.N75I
c.224A>T
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