Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_005143.5
p.M1K
c.2T>A
1 paper
NM_005143.5
p.M1R
c.2T>G
1 paper
NM_005143.5
p.M1delFs
c.3delG
4 papers
NM_005143.5
p.M1insFs
c.2dupT
2 papers
NM_005143.5
p.M1V
c.1A>G
1 paper
NM_005143.5
p.M1delFs
c.2delT
2 papers
NM_005143.5
p.M1I
c.3G>A
1 paper
NM_005143.5
p.M1I
c.3G>C
2 papers
NM_005143.5
p.M1_S2insFs
c.3_4insT
1 paper
NM_005143.5
p.M1I
c.3G>T
1 paper
NM_005143.5
p.S2delFs
c.4delA
1 paper
NM_005143.5
p.S2N
c.5G>A
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