Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.P219R

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.P219R
c.656C>G
Surrounding Variants
1 paper
NM_005143.5
p.T220delFs
c.658delA
1 paper
NM_005143.5
p.T220delFs
c.658_659delAC
1 paper
NM_005143.5
p.T220A
c.658A>G
1 paper
NM_005143.5
p.I217T
c.650T>C
1 paper
NM_005143.5
p.T222I
c.665C>T
1 paper
NM_005143.5
p.K215R
c.644A>G
1 paper
NM_005143.5
p.K215_Y224delFs
c.645_670del26
1 paper
NM_005143.5
p.L223R
c.668T>G
1 paper
NM_005143.5
p.A214V
c.641C>T
1 paper
NM_005143.5
p.V225_G226delFs
c.674_677del4
1 paper
NM_005143.5
p.T213insFs
c.638_639insA
1 paper
NM_005143.5
p.T213delFs
c.638delC
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