Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.F205L

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.F205L
c.615C>G
Surrounding Variants
1 paper
NM_005143.5
p.F205L
c.615C>A
1 paper
NM_005143.5
p.F205F
c.615C>T
1 paper
NM_005143.5
p.L206Q
c.617T>A
1 paper
NM_005143.5
p.F205L
c.613T>C
1 paper
NM_005143.5
p.L206R
c.617T>G
1 paper
NM_005143.5
p.N207_S209del3
c.619_626del9
1 paper
NM_005143.5
p.N207Y
c.619A>T
1 paper
NM_005143.5
p.N207S
c.620A>G
1 paper
NM_005143.5
p.L204F
c.610C>T
1 paper
NM_005143.5
p.H208_S209insFs
c.623_626dup4
1 paper
NM_005143.5
p.H208Y
c.622C>T
1 paper
NM_005143.5
p.N203H
c.607A>C
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