Varaico: Literature-Extracted Genetic Variants

Gene:PIGH

PIGH

25 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and w...

Pfam Domains

PIG-Haa 89–158UCSCGPI-GlcNAc transferase complex, PIG-H component

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class H

HGNC Alias Symbol

GPI-H

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
5 papers
NM_004569.5
p.S103P
c.307T>C
4 papers
NM_004569.5
p.M1L
c.1A>T
3 papers
NM_004569.5
p.M1L
c.1A>C
2 papers
NM_004569.5
p.R163W
c.487C>T
1 paper
NM_004569.5
p.M1V
c.1A>G
1 paper
NM_004569.5
p.A52T
c.154G>A
1 paper
NM_004569.5
p.E60_N61Splc
c.181-10C>G
1 paper
NM_004569.5
p.M63T
c.188T>C
1 paper
NM_004569.5
p.S66F
c.197C>T
1 paper
NM_004569.5
p.A67V
c.200C>T
1 paper
NM_004569.5
p.T72S
c.214A>T
1 paper
NM_004569.5
p.T72S
c.215C>G
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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."