Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.K53K

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.K53K
c.159G>A
Surrounding Variants
2 papers
NM_005143.5
p.N54Y
c.160A>T
1 paper
NM_005143.5
p.Y55N
c.163T>A
1 paper
NM_005143.5
p.C52R
c.154T>C
1 paper
NM_005143.5
p.Q51_C52insC
c.151_155ins3
1 paper
NM_005143.5
p.Q51*
c.151C>T
1 paper
NM_005143.5
p.K57I
c.170A>T
1 paper
NM_005143.5
p.R49insFs
c.146_147ins4
1 paper
NM_005143.5
p.L58L
c.174G>A
3 papers
NM_005143.5
p.L58L
c.174G>C
2 papers
NM_005143.5
p.V48A
c.143T>C
1 paper
NM_005143.5
p.V48I
c.142G>A
1 paper
NM_005143.5
p.T60_E61insT
c.178_182ins3
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