Varaico: Literature-Extracted Genetic Variants

Gene:GLYR1
Variant:p.E50fs

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
Selected Variant
1 paper
NM_032569.4
p.E50fs
c.148_149fs
Surrounding Variants
1 paper
NM_032569.4
p.E50delFs
c.150delT
1 paper
NM_032569.4
p.G48delins
c.142delinsT
1 paper
NM_032569.4
p.G38R
c.112G>C
1 paper
NM_032569.4
p.G38R
c.112G>A
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