Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.Q347*

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.Q347*
c.1039C>T
Surrounding Variants
1 paper
NM_005143.5
p.Q347_E348insFs
c.1039_1043dup5
1 paper
NM_005143.5
p.E348K
c.1042G>A
1 paper
NM_005143.5
p.Y346_D349del0
c.1036_1047del12
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.T350N
c.1049C>A
1 paper
NM_005143.5
p.G342G
c.1026C>A
1 paper
NM_005143.5
p.A341delFs
c.1023delT
1 paper
NM_005143.5
p.A341P
c.1021G>C
1 paper
NM_005143.5
p.C340G
c.1018T>G
1 paper
NM_005143.5
p.T338N
c.1013C>A
1 paper
NM_005143.5
p.T338I
c.1013C>T
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