Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.D70G

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.D70G
c.209A>G
Surrounding Variants
1 paper
NM_005143.5
p.N69Fs
c.205_206delinsAACTFs
1 paper
NM_005143.5
p.N69Y
c.205A>T
1 paper
NM_005143.5
p.N69_D70del1
c.207_209delTGA
1 paper
NM_005143.5
p.K72E
c.214A>G
1 paper
NM_005143.5
p.N69del1
c.205_206delAAT
1 paper
NM_005143.5
p.K72R
c.215A>G
1 paper
NM_005143.5
p.N69insFs
c.206_207insA
1 paper
NM_005143.5
p.K72K
c.216G>A
1 paper
NM_005143.5
p.Q73Q
c.219G>A
1 paper
NM_005143.5
p.W74R
c.220T>A
1 paper
NM_005143.5
p.W74*
c.222G>A
1 paper
NM_005143.5
p.I75_N76del2
c.223_227del6
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