Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.Y313delFs

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.Y313delFs
c.939delT
Surrounding Variants
1 paper
NM_005143.5
p.Y313insFs
c.939dupT
1 paper
NM_005143.5
p.E314_T317del4
c.940_950del12
1 paper
NM_005143.5
p.E314fs
c.940_941fs
1 paper
NM_005143.5
p.E314_G315delFs
c.942_945del4
1 paper
NM_005143.5
p.T317_V318delFs
c.950_953del4
1 paper
NM_005143.5
p.D307A
c.920A>C
1 paper
NM_005143.5
p.E320K
c.958G>A
1 paper
NM_005143.5
p.E320_K321insFs
c.960_961dupAA
1 paper
NM_005143.5
p.K321E
c.961A>G
1 paper
NM_005143.5
p.D305E
c.915C>G
1 paper
NM_005143.5
p.K321M
c.962A>T
1 paper
NM_005143.5
p.D305N
c.913G>A
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