Varaico: Literature-Extracted Genetic Variants

Gene:QPCT
Variant:p.R27W

QPCT

255 papers

RefSeq Summary

This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% iden...

Pfam Domains

Peptidase_M28aa 122–355UCSCPeptidase family M28

Gene Aliases

HGNC Name

glutaminyl-peptide cyclotransferase

HGNC Alias Symbols

QC; GCT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012413.4
p.R27W
c.79A>T
Surrounding Variants
1 paper
NM_012413.4
p.A25E
c.74C>A
1 paper
NM_012413.4
p.W24*
c.72G>A
1 paper
NM_012413.4
p.W24*
c.71G>A
1 paper
NM_012413.4
p.P23L
c.68C>T
1 paper
NM_012413.4
p.L22R
c.65T>G
1 paper
NM_012413.4
p.A21A
c.63C>T
1 paper
NM_012413.4
p.A33D
c.98C>A
1 paper
NM_012413.4
p.A33V
c.98C>T
1 paper
NM_012413.4
p.P37T
c.109C>A
1 paper
NM_012413.4
p.L15Q
c.44T>A
1 paper
NM_012413.4
p.R8H
c.23G>A
1 paper
NM_012413.4
p.H6D
c.16C>G
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