Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.L198M

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.L198M
c.592C>A
Surrounding Variants
1 paper
NM_005143.5
p.L198L
c.592C>T
1 paper
NM_005143.5
p.T199I
c.596C>T
1 paper
NM_005143.5
p.W196R
c.586T>A
1 paper
NM_005143.5
p.T200K
c.599C>A
1 paper
NM_005143.5
p.T200insFs
c.599_600insA
1 paper
NM_005143.5
p.T200insFs
c.600dupG
1 paper
NM_005143.5
p.A201T
c.601G>A
1 paper
NM_005143.5
p.A201_K202insFs
c.603_604insA
1 paper
NM_005143.5
p.E194insFs
c.582dupA
1 paper
NM_005143.5
p.K202N
c.606A>C
1 paper
NM_005143.5
p.K202N
c.606A>T
1 paper
NM_005143.5
p.N203H
c.607A>C
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