Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.Q51_C52insC

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
Selected Variant
1 paper
NM_005143.5
p.Q51_C52insC
c.151_155ins3
Surrounding Variants
1 paper
NM_005143.5
p.Q51*
c.151C>T
1 paper
NM_005143.5
p.C52R
c.154T>C
1 paper
NM_005143.5
p.R49insFs
c.146_147ins4
1 paper
NM_005143.5
p.K53K
c.159G>A
2 papers
NM_005143.5
p.V48A
c.143T>C
2 papers
NM_005143.5
p.N54Y
c.160A>T
1 paper
NM_005143.5
p.V48I
c.142G>A
1 paper
NM_005143.5
p.S47insFs
c.140_141ins4
1 paper
NM_005143.5
p.S47W
c.140C>G
1 paper
NM_005143.5
p.Y55N
c.163T>A
1 paper
NM_005143.5
p.S47P
c.139T>C
1 paper
NM_005143.5
p.H46Q
c.138C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."