Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.K255N

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.K255N
c.765G>C
Surrounding Variants
1 paper
NM_005143.5
p.K255E
c.763A>G
1 paper
NM_005143.5
p.S257F
c.770C>T
1 paper
NM_005143.5
p.K253R
c.758A>G
1 paper
NM_005143.5
p.L252F
c.754C>T
1 paper
NM_005143.5
p.E260K
c.778G>A
1 paper
NM_005143.5
p.E260Q
c.778G>C
1 paper
NM_005143.5
p.E260A
c.779A>C
2 papers
NM_005143.5
p.V262_M263del2
c.784_788del6
1 paper
NM_005143.5
p.L249insFs
c.745_746ins4
1 paper
NM_005143.5
p.M263insFs
c.787_788insC
1 paper
NM_005143.5
p.M263insFs
c.788dupT
2 papers
NM_005143.5
p.I247T
c.740T>C
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