Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.C381delFs

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.C381delFs
c.1141delT
Surrounding Variants
1 paper
NM_005143.5
p.C381G
c.1141T>G
1 paper
NM_005143.5
p.D378V
c.1133A>T
1 paper
NM_005143.5
p.Y386C
c.1157A>G
1 paper
NM_005143.5
p.G387D
c.1160G>A
1 paper
NM_005143.5
p.Y389H
c.1165T>C
1 paper
NM_005143.5
p.Y389insFs
c.1167dupT
3 papers
NM_005143.5
p.Y389S
c.1166A>C
1 paper
NM_005143.5
p.Y389Y
c.1167T>C
1 paper
NM_005143.5
p.A371V
c.1112C>T
1 paper
NM_005143.5
p.V390fs
c.1168_1169fs
1 paper
NM_005143.5
p.K391R
c.1172A>G
1 paper
NM_005143.5
p.T368S
c.1102A>T
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