Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.A177delFs

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.A177delFs
c.530delC
Surrounding Variants
1 paper
NM_005143.5
p.A177T
c.529G>A
1 paper
NM_005143.5
p.K178R
c.533A>G
1 paper
NM_005143.5
p.K178M
c.533A>T
1 paper
NM_005143.5
p.V180fs
c.538_539fs
2 papers
NM_005143.5
p.F173L
c.517T>C
1 paper
NM_005143.5
p.K170fs
c.508_509fs
1 paper
NM_005143.5
p.N184S
c.551A>G
1 paper
NM_005143.5
p.K170delFs
c.510delA
1 paper
NM_005143.5
p.L185V
c.553C>G
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.D168H
c.502G>C
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