Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.G22insFs

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.G22insFs
c.64_65insG
Surrounding Variants
1 paper
NM_005143.5
p.G22S
c.64G>A
2 papers
NM_005143.5
p.G22insFs
c.64_65insT
1 paper
NM_005143.5
p.S21A
c.61T>G
1 paper
NM_005143.5
p.D20E
c.60C>A
1 paper
NM_005143.5
p.D20_S21insFs
c.60_61insT
2 papers
NM_005143.5
p.G22G
c.66C>G
1 paper
NM_005143.5
p.D20H
c.58G>C
1 paper
NM_005143.5
p.D20Y
c.58G>T
1 paper
NM_005143.5
p.V19V
c.57G>A
1 paper
NM_005143.5
p.V19V
c.57G>T
1 paper
NM_005143.5
p.D24N
c.70G>A
1 paper
NM_005143.5
p.D24insFs
c.70_71ins5
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