Varaico: Literature-Extracted Genetic Variants

Gene:GLYR1

GLYR1

62 papers

Pfam Domains

PWWPaa 9–92UCSCPWWP domain
NAD_binding_2aa 269–428UCSCNAD binding domain of 6-phosphogluconate dehydrogenase
NAD_binding_11aa 430–551UCSCNAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase

Gene Aliases

HGNC Name

glyoxylate reductase 1 homolog

HGNC Alias Symbols

BM045; HIBDL; NP60; N-PAC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
5 papers
NM_032569.4
p.G380insFs
c.1140dupG
4 papers
NM_032569.4
p.G380delFs
c.1140delC
4 papers
NM_032569.4
p.P496L
c.1487C>T
3 papers
NM_032569.4
p.G380fs
c.1138_1139fs
2 papers
NM_032569.4
p.R381fs
c.1141_1142fs
2 papers
NM_032569.4
p.R381fs
c.1141_1142fs
2 papers
NM_032569.4
p.A419V
c.1256C>T
1 paper
NM_032569.4
p.G38R
c.112G>C
1 paper
NM_032569.4
p.G38R
c.112G>A
1 paper
NM_032569.4
p.G48delins
c.142delinsT
1 paper
NM_032569.4
p.E50fs
c.148_149fs
1 paper
NM_032569.4
p.E50delFs
c.150delT
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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."