Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.K77R

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.K77R
c.230A>G
Surrounding Variants
1 paper
NM_005143.5
p.K77_A78insT
c.229_233ins3
3 papers
NM_005143.5
p.G80R
c.238G>A
1 paper
NM_005143.5
p.W74*
c.222G>A
1 paper
NM_005143.5
p.I75_N76del2
c.223_227del6
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.W74R
c.220T>A
1 paper
NM_005143.5
p.Q73Q
c.219G>A
1 paper
NM_005143.5
p.K72K
c.216G>A
1 paper
NM_005143.5
p.K72R
c.215A>G
1 paper
NM_005143.5
p.K72E
c.214A>G
3 papers
NM_005143.5
p.L83V
c.247C>G
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