Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.C340G

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.C340G
c.1018T>G
Surrounding Variants
1 paper
NM_005143.5
p.A341P
c.1021G>C
1 paper
NM_005143.5
p.A341delFs
c.1023delT
1 paper
NM_005143.5
p.T338N
c.1013C>A
1 paper
NM_005143.5
p.T338I
c.1013C>T
1 paper
NM_005143.5
p.T338A
c.1012A>G
1 paper
NM_005143.5
p.G342G
c.1026C>A
1 paper
NM_005143.5
p.Y346_D349del0
c.1036_1047del12
1 paper
NM_005143.5
p.L334_N335delFs
c.1002_1005del4
1 paper
NM_005143.5
p.L334_H337del4
c.1000_1010del12
1 paper
NM_005143.5
p.Q347_E348insFs
c.1039_1043dup5
1 paper
NM_005143.5
p.Q347*
c.1039C>T
1 paper
NM_005143.5
p.P332T
c.994C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."