Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.V180fs

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.V180fs
c.538_539fs
Surrounding Variants
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.A177T
c.529G>A
1 paper
NM_005143.5
p.A177delFs
c.530delC
1 paper
NM_005143.5
p.N184S
c.551A>G
1 paper
NM_005143.5
p.L185V
c.553C>G
2 papers
NM_005143.5
p.F173L
c.517T>C
1 paper
NM_005143.5
p.T187insFs
c.560_561insA
1 paper
NM_005143.5
p.T187_T190Fs
c.560_568delinsTGGTTACCATCATCFs
1 paper
NM_005143.5
p.G188R
c.562G>C
1 paper
NM_005143.5
p.A189T
c.565G>A
1 paper
NM_005143.5
p.K170fs
c.508_509fs
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