Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.A9S

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
2 papers
NM_005143.5
p.A9S
c.25G>T
Surrounding Variants
1 paper
NM_005143.5
p.A9insFs
c.27dupC
1 paper
NM_005143.5
p.I8insFs
c.23dupT
2 papers
NM_005143.5
p.L10I
c.28C>A
1 paper
NM_005143.5
p.L10V
c.28C>G
3 papers
NM_005143.5
p.L10F
c.28C>T
1 paper
NM_005143.5
p.V7V
c.21C>G
1 paper
NM_005143.5
p.V7V
c.21C>T
1 paper
NM_005143.5
p.I8delFs
c.22_23delAT
2 papers
NM_005143.5
p.L10P
c.29T>C
1 paper
NM_005143.5
p.V7A
c.20T>C
1 paper
NM_005143.5
p.L11insFs
c.32dupT
1 paper
NM_005143.5
p.L11L
c.31C>T
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