Varaico: Literature-Extracted Genetic Variants

Gene:HPR

HPR

53 papers

RefSeq Summary

This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell...

Pfam Domains

Trypsinaa 104–341UCSCTrypsin

Gene Aliases

HGNC Name

haptoglobin-related protein

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
1 paper
NM_020995.4
p.M1K
c.2T>A
1 paper
NM_020995.4
p.M1delFs
c.3delG
1 paper
NM_020995.4
p.L10P
c.29T>C
1 paper
NM_020995.4
p.L11_L12insFs
c.33_34insC
1 paper
NM_020995.4
p.W13*
c.38G>A
1 paper
NM_020995.4
p.L17V
c.49C>G
1 paper
NM_020995.4
p.R33_F34insC
c.97_101ins3
1 paper
NM_020995.4
p.P35S
c.103C>T
1 paper
NM_020995.4
p.P38P
c.114T>G
1 paper
NM_020995.4
p.F49S
c.146T>C
1 paper
NM_020995.4
p.Q52*
c.154C>T
1 paper
NM_020995.4
p.Q52_C53insFs
c.156_157insC
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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."