Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.L83F

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.L83F
c.247C>T
Surrounding Variants
3 papers
NM_005143.5
p.L83V
c.247C>G
1 paper
NM_005143.5
p.P84S
c.250C>T
1 paper
NM_005143.5
p.P84P
c.252T>A
1 paper
NM_005143.5
p.E85delFs
c.253delG
2 papers
NM_005143.5
p.G80G
c.240A>G
1 paper
NM_005143.5
p.G80G
c.240A>T
1 paper
NM_005143.5
p.E85E
c.255A>G
3 papers
NM_005143.5
p.G80R
c.238G>A
1 paper
NM_005143.5
p.C86_E87insA
c.256_260ins3
1 paper
NM_005143.5
p.C86Y
c.257G>A
2 papers
NM_005143.5
p.A88delFs
c.262_263delGC
1 paper
NM_005143.5
p.K77R
c.230A>G
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."