Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.S357delFs

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.S357delFs
c.1070_1071delGT
Surrounding Variants
1 paper
NM_005143.5
p.G356D
c.1067G>A
1 paper
NM_005143.5
p.A358T
c.1072G>A
1 paper
NM_005143.5
p.G356R
c.1066G>C
1 paper
NM_005143.5
p.A360_V361delFs
c.1079_1083del5
1 paper
NM_005143.5
p.T350N
c.1049C>A
2 papers
NM_005143.5
p.D349N
c.1045G>A
1 paper
NM_005143.5
p.D349Y
c.1045G>T
1 paper
NM_005143.5
p.E348K
c.1042G>A
1 paper
NM_005143.5
p.E366K
c.1096G>A
1 paper
NM_005143.5
p.D367insFs
c.1099dupG
1 paper
NM_005143.5
p.Q347*
c.1039C>T
1 paper
NM_005143.5
p.Q347_E348insFs
c.1039_1043dup5
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