Varaico: Literature-Extracted Genetic Variants

Gene:CHAC1
Variant:p.E115Q

CHAC1

11 papers

RefSeq Summary

This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, whic...

Pfam Domains

ChaCaa 33–208UCSCChaC-like protein

Gene Aliases

HGNC Name

ChaC glutathione specific gamma-glutamylcyclotransferase 1

HGNC Alias Symbol

MGC4504

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024111.6
p.E115Q
c.343G>C
Surrounding Variants
1 paper
NM_024111.6
p.A48T
c.142G>A
1 paper
NM_024111.6
p.L33R
c.98T>G
1 paper
NM_024111.6
p.A7G
c.20C>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."