Varaico: Literature-Extracted Genetic Variants

Gene:HP

HP

938 papers

RefSeq Summary

This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma he...

Pfam Domains

Trypsinaa 162–399UCSCTrypsin

Gene Aliases

HGNC Name

haptoglobin

Papers
RefSeq ID
Protein change
DNA change
1–12 of 468 variants
4 papers
NM_005143.5
p.M1insFs
c.2dupT
4 papers
NM_005143.5
p.D30N
c.88G>A
4 papers
NM_005143.5
p.C33S
c.97T>A
3 papers
NM_005143.5
p.L10F
c.28C>T
3 papers
NM_005143.5
p.L58L
c.174G>C
3 papers
NM_005143.5
p.T60A
c.178A>G
3 papers
NM_005143.5
p.G64Splc
c.190+1G>C
3 papers
NM_005143.5
p.G80R
c.238G>A
3 papers
NM_005143.5
p.L83V
c.247C>G
3 papers
NM_005143.5
p.V281L
c.841G>C
3 papers
NM_005143.5
p.Y389S
c.1166A>C
2 papers
NM_005143.5
p.M1V
c.1A>G
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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."