Varaico: Literature-Extracted Genetic Variants

GRHPR

204 papers

RefSeq Summary

This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in meta...

Pfam Domains

2-Hacid_dhaa 9–327UCSCD-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain

2-Hacid_dh_Caa 116–295UCSCD-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain

Gene Aliases

HGNC Name

glyoxylate and hydroxypyruvate reductase

HGNC Previous Symbols

GLXR; GLYD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012203.2

p.R96Splc

c.288-1G>C

Surrounding Variants

1 paper

NM_012203.2

p.R96Splc

c.288-1G>A

2 papers

NM_012203.2

p.G97E

c.290G>A

1 paper

NM_012203.2

p.G97V

c.290G>T

1 paper

NM_012203.2

p.I98delFs

c.292_293delAT

11 papers

NM_012203.2

p.R99*

c.295C>T

2 papers

NM_012203.2

p.R96Splc

c.288-11C>T

1 paper

NM_012203.2

p.V100insFs

c.298_299ins17

1 paper

NM_012203.2

p.V100_T103ins1

c.299_307dup9

1 paper

NM_012203.2

p.Y102*

c.306C>A

1 paper

NM_012203.2

p.Y102*

c.306C>G

1 paper

NM_012203.2

p.T103I

c.308C>T

1 paper

NM_012203.2

p.D105N

c.313G>A