Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.G64Splc

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
3 papers
NM_005143.5
p.G64Splc
c.190+1G>C
Surrounding Variants
2 papers
NM_005143.5
p.G64R
c.190G>A
2 papers
NM_005143.5
p.G64_V65insT
c.190_194ins3
1 paper
NM_005143.5
p.G64Splc
c.190+5G>A
1 paper
NM_005143.5
p.E61Q
c.181G>C
1 paper
NM_005143.5
p.T60R
c.179C>G
1 paper
NM_005143.5
p.T60_E61insT
c.178_182ins3
1 paper
NM_005143.5
p.T60insFs
c.178_179insT
1 paper
NM_005143.5
p.T60P
c.178A>C
3 papers
NM_005143.5
p.T60A
c.178A>G
1 paper
NM_005143.5
p.L58L
c.174G>A
3 papers
NM_005143.5
p.L58L
c.174G>C
1 paper
NM_005143.5
p.K57I
c.170A>T
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."