Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.G80R

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
3 papers
NM_005143.5
p.G80R
c.238G>A
Surrounding Variants
2 papers
NM_005143.5
p.G80G
c.240A>G
1 paper
NM_005143.5
p.G80G
c.240A>T
1 paper
NM_005143.5
p.K77R
c.230A>G
1 paper
NM_005143.5
p.K77_A78insT
c.229_233ins3
3 papers
NM_005143.5
p.L83V
c.247C>G
1 paper
NM_005143.5
p.L83F
c.247C>T
1 paper
NM_005143.5
p.P84S
c.250C>T
1 paper
NM_005143.5
p.P84P
c.252T>A
1 paper
NM_005143.5
p.E85delFs
c.253delG
1 paper
NM_005143.5
p.W74*
c.222G>A
1 paper
NM_005143.5
p.I75_N76del2
c.223_227del6
1 paper
NM_005143.5
p.E85E
c.255A>G
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