Varaico: Literature-Extracted Genetic Variants

Gene:GLYR1
Variant:p.Q474*

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.Q474*
c.1420C>T
Surrounding Variants
1 paper
NM_032569.4
p.M437K
c.1310T>A
4 papers
NM_032569.4
p.P496L
c.1487C>T
2 papers
NM_032569.4
p.A419V
c.1256C>T
1 paper
NM_032569.4
p.G397E
c.1190G>A
1 paper
NM_032569.4
p.P386L
c.1157C>T
2 papers
NM_032569.4
p.R381fs
c.1141_1142fs
1 paper
NM_032569.4
p.R381C
c.1141C>T
5 papers
NM_032569.4
p.G380insFs
c.1140dupG
4 papers
NM_032569.4
p.G380delFs
c.1140delC
2 papers
NM_032569.4
p.R381fs
c.1141_1142fs
3 papers
NM_032569.4
p.G380fs
c.1138_1139fs
1 paper
NM_032569.4
p.R378S
c.1134G>T
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