Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.S2Splc

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.S2Splc
c.6-1G>A
Surrounding Variants
1 paper
NM_005143.5
p.S2Splc
c.6-1G>C
1 paper
NM_005143.5
p.A3Fs
c.7delinsTGGTCFs
1 paper
NM_005143.5
p.A3V
c.8C>T
2 papers
NM_005143.5
p.A3A
c.9C>T
1 paper
NM_005143.5
p.L4M
c.10C>A
1 paper
NM_005143.5
p.L4insFs
c.11dupT
1 paper
NM_005143.5
p.L4Fs
c.12delinsAAFs
2 papers
NM_005143.5
p.L4L
c.12G>C
1 paper
NM_005143.5
p.G5R
c.13G>C
1 paper
NM_005143.5
p.G5E
c.14G>A
1 paper
NM_005143.5
p.G5V
c.14G>T
1 paper
NM_005143.5
p.V7A
c.20T>C
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