Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.V278A

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.V278A
c.833T>C
Surrounding Variants
1 paper
NM_005143.5
p.G276E
c.827G>A
3 papers
NM_005143.5
p.V281L
c.841G>C
1 paper
NM_005143.5
p.V281G
c.842T>G
1 paper
NM_005143.5
p.S282P
c.844T>C
1 paper
NM_005143.5
p.S282F
c.845C>T
1 paper
NM_005143.5
p.A273E
c.818C>A
1 paper
NM_005143.5
p.W284insFs
c.850_851ins4
1 paper
NM_005143.5
p.A273insFs
c.817dupG
1 paper
NM_005143.5
p.Y272N
c.814T>A
1 paper
NM_005143.5
p.G285R
c.853G>A
1 paper
NM_005143.5
p.G285R
c.853G>C
1 paper
NM_005143.5
p.D271E
c.813T>A
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