Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.L12F

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.L12F
c.34C>T
Surrounding Variants
1 paper
NM_005143.5
p.L12_Q15delFs
c.35_44del10
1 paper
NM_005143.5
p.L11L
c.33G>A
1 paper
NM_005143.5
p.L12insFs
c.34_35insC
1 paper
NM_005143.5
p.L12insFs
c.35_36insG
1 paper
NM_005143.5
p.L11Q
c.32T>A
1 paper
NM_005143.5
p.L11insFs
c.32dupT
1 paper
NM_005143.5
p.L11L
c.31C>T
1 paper
NM_005143.5
p.W13insFs
c.38_39insGC
1 paper
NM_005143.5
p.W13C
c.39G>C
1 paper
NM_005143.5
p.W13C
c.39G>T
2 papers
NM_005143.5
p.L10P
c.29T>C
2 papers
NM_005143.5
p.L10I
c.28C>A
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