Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.A40A

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.A40A
c.120A>T
Surrounding Variants
2 papers
NM_005143.5
p.A40V
c.119C>T
1 paper
NM_005143.5
p.G42delFs
c.124_125delGG
1 paper
NM_005143.5
p.G42G
c.126C>T
1 paper
NM_005143.5
p.Y43H
c.127T>C
1 paper
NM_005143.5
p.Y43_V44insT
c.127_131ins3
1 paper
NM_005143.5
p.Y43insFs
c.128_129insG
1 paper
NM_005143.5
p.E38_I39insFs
c.113_116dup4
1 paper
NM_005143.5
p.E38delFs
c.112_113delGA
1 paper
NM_005143.5
p.Y43_V44insFs
c.129_130insC
1 paper
NM_005143.5
p.V44_H46del0
c.130_138del9
1 paper
NM_005143.5
p.V44V
c.132G>T
1 paper
NM_005143.5
p.P36R
c.107C>G
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