Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.L267V

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.L267V
c.799C>G
Surrounding Variants
1 paper
NM_005143.5
p.L267P
c.800T>C
2 papers
NM_005143.5
p.P268S
c.802C>T
1 paper
NM_005143.5
p.I265insFs
c.794dupT
1 paper
NM_005143.5
p.K270R
c.809A>G
1 paper
NM_005143.5
p.M263insFs
c.787_788insC
1 paper
NM_005143.5
p.M263insFs
c.788dupT
1 paper
NM_005143.5
p.D271E
c.813T>A
1 paper
NM_005143.5
p.Y272N
c.814T>A
2 papers
NM_005143.5
p.V262_M263del2
c.784_788del6
1 paper
NM_005143.5
p.A273insFs
c.817dupG
1 paper
NM_005143.5
p.A273E
c.818C>A
1 paper
NM_005143.5
p.E260A
c.779A>C
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