Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.N211S

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.N211S
c.632A>G
Surrounding Variants
1 paper
NM_005143.5
p.N211_A212insFs
c.633_634insA
1 paper
NM_005143.5
p.E210G
c.629A>G
1 paper
NM_005143.5
p.E210K
c.628G>A
1 paper
NM_005143.5
p.T213delFs
c.638delC
1 paper
NM_005143.5
p.T213insFs
c.638_639insA
1 paper
NM_005143.5
p.S209L
c.626C>T
1 paper
NM_005143.5
p.S209P
c.625T>C
1 paper
NM_005143.5
p.A214V
c.641C>T
1 paper
NM_005143.5
p.H208Y
c.622C>T
1 paper
NM_005143.5
p.H208_S209insFs
c.623_626dup4
1 paper
NM_005143.5
p.N207S
c.620A>G
1 paper
NM_005143.5
p.K215R
c.644A>G
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