Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.N241T

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.N241T
c.722A>C
Surrounding Variants
1 paper
NM_005143.5
p.N241S
c.722A>G
1 paper
NM_005143.5
p.P240insFs
c.718dupC
1 paper
NM_005143.5
p.S243S
c.729C>A
1 paper
NM_005143.5
p.S243S
c.729C>T
1 paper
NM_005143.5
p.V245E
c.734T>A
2 papers
NM_005143.5
p.I247T
c.740T>C
1 paper
NM_005143.5
p.K235del1
c.703_705delAAG
1 paper
NM_005143.5
p.L249insFs
c.745_746ins4
1 paper
NM_005143.5
p.I233_E234delins
c.697_700delinsTAAC
1 paper
NM_005143.5
p.E232K
c.694G>A
1 paper
NM_005143.5
p.E232_V237ins2
c.694_711dup18
1 paper
NM_005143.5
p.V231I
c.691G>A
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