Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.L167fs

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.L167fs
c.499_500fs
Surrounding Variants
2 papers
NM_005143.5
p.L167del1
c.499_500delCTG
1 paper
NM_005143.5
p.L167_P174delFs
c.499_520del22
1 paper
NM_005143.5
p.D168H
c.502G>C
1 paper
NM_005143.5
p.D168E
c.504T>A
1 paper
NM_005143.5
p.D168E
c.504T>G
1 paper
NM_005143.5
p.K170delFs
c.510delA
1 paper
NM_005143.5
p.K170fs
c.508_509fs
1 paper
NM_005143.5
p.G164S
c.490G>A
1 paper
NM_005143.5
p.G164insFs
c.491_492insG
1 paper
NM_005143.5
p.R161W
c.481C>T
2 papers
NM_005143.5
p.F173L
c.517T>C
1 paper
NM_005143.5
p.Q160insFs
c.478_479insT
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