Varaico: Literature-Extracted Genetic Variants

Gene:PIGZ
Variant:p.G513R

PIGZ

50 papers

RefSeq Summary

The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endopla...

Pfam Domains

Glyco_transf_22aa 37–473UCSCAlg9-like mannosyltransferase family

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class Z

HGNC Alias Symbols

FLJ12768; MGC52163; SMP3; hSMP3; PIG-Z; GPI-MT-IV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025163.4
p.G513R
c.1537G>C
Surrounding Variants
1 paper
NM_025163.4
p.G513R
c.1537G>A
1 paper
NM_025163.4
p.R518C
c.1552C>T
1 paper
NM_025163.4
p.G525A
c.1574G>C
1 paper
NM_025163.4
p.R529H
c.1586G>A
2 papers
NM_025163.4
p.M487I
c.1461G>T
2 papers
NM_025163.4
p.M487I
c.1461G>C
2 papers
NM_025163.4
p.M487I
c.1461G>A
1 paper
NM_025163.4
p.R470fs
c.1408_1409fs
1 paper
NM_025163.4
p.R470delFs
c.1408delG
1 paper
NM_025163.4
p.R470fs
c.1408_1409fs
1 paper
NM_025163.4
p.P468P
c.1404C>T
1 paper
NM_025163.4
p.M467fs
c.1399_1400fs
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