Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.D30N

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
4 papers
NM_005143.5
p.D30N
c.88G>A
Surrounding Variants
1 paper
NM_005143.5
p.D30H
c.88G>C
1 paper
NM_005143.5
p.D30Splc
c.88+1G>A
1 paper
NM_005143.5
p.D30Splc
c.88+1G>C
1 paper
NM_005143.5
p.A29insFs
c.86_87insA
2 papers
NM_005143.5
p.D30Splc
c.88+2T>G
1 paper
NM_005143.5
p.A29P
c.85G>C
1 paper
NM_005143.5
p.D30Splc
c.88+5G>A
2 papers
NM_005143.5
p.I28V
c.82A>G
1 paper
NM_005143.5
p.D27H
c.79G>C
1 paper
NM_005143.5
p.D27insFs
c.79_80insC
1 paper
NM_005143.5
p.T26insFs
c.77_78insT
1 paper
NM_005143.5
p.V25_T26delFs
c.75_76delCA
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