Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.D305N

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.D305N
c.913G>A
Surrounding Variants
1 paper
NM_005143.5
p.D305E
c.915C>G
1 paper
NM_005143.5
p.A304V
c.911C>T
1 paper
NM_005143.5
p.V303G
c.908T>G
1 paper
NM_005143.5
p.D307A
c.920A>C
1 paper
NM_005143.5
p.L301L
c.903G>A
1 paper
NM_005143.5
p.L301_P302del2
c.901_905del6
1 paper
NM_005143.5
p.Y298H
c.892T>C
1 paper
NM_005143.5
p.K297R
c.890A>G
1 paper
NM_005143.5
p.K297E
c.889A>G
1 paper
NM_005143.5
p.Y313insFs
c.939dupT
1 paper
NM_005143.5
p.Y313delFs
c.939delT
1 paper
NM_005143.5
p.E314_T317del4
c.940_950del12
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