Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.G164insFs

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.G164insFs
c.491_492insG
Surrounding Variants
1 paper
NM_005143.5
p.G164S
c.490G>A
1 paper
NM_005143.5
p.R161W
c.481C>T
1 paper
NM_005143.5
p.L167_P174delFs
c.499_520del22
1 paper
NM_005143.5
p.Q160insFs
c.478_479insT
2 papers
NM_005143.5
p.L167del1
c.499_500delCTG
1 paper
NM_005143.5
p.L167fs
c.499_500fs
1 paper
NM_005143.5
p.V159M
c.475G>A
1 paper
NM_005143.5
p.D168H
c.502G>C
2 papers
NM_005143.5
p.P158A
c.472C>G
2 papers
NM_005143.5
p.P158S
c.472C>T
1 paper
NM_005143.5
p.D168E
c.504T>A
1 paper
NM_005143.5
p.D168E
c.504T>G
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