Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.F17L

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.F17L
c.51T>G
Surrounding Variants
1 paper
NM_005143.5
p.F17L
c.51T>A
1 paper
NM_005143.5
p.F17_A18insFs
c.51_52insC
1 paper
NM_005143.5
p.A18S
c.52G>T
1 paper
NM_005143.5
p.F17L
c.49T>C
1 paper
NM_005143.5
p.F17fs
c.49_50fs
1 paper
NM_005143.5
p.V19M
c.55G>A
1 paper
NM_005143.5
p.V19insFs
c.56dupT
2 papers
NM_005143.5
p.L16P
c.47T>C
1 paper
NM_005143.5
p.L16F
c.46C>T
1 paper
NM_005143.5
p.L16delFs
c.48delT
1 paper
NM_005143.5
p.V19A
c.56T>C
1 paper
NM_005143.5
p.D20insFs
c.58dupG
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