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

1–12 of 461 variants

32 papers

NM_012203.2

p.D35delFs

c.103delG

22 papers

NM_012203.2

p.C288_V289delFs

c.864_865delTG

15 papers

NM_012203.2

p.G165D

c.494G>A

15 papers

NM_012203.2

p.G165D

c.494G>A

11 papers

NM_012203.2

p.R99*

c.295C>T

10 papers

NM_012203.2

p.V289fs

c.865_866fs

9 papers

NM_012203.2

p.V11_T12insFs

c.33_34insC

6 papers

NM_012203.2

p.D35fs

c.103_104fs

6 papers

NM_012203.2

p.D61N

c.181G>A

6 papers

NM_012203.2

p.P203delFs

c.608_609delCT

6 papers

NM_012203.2

p.R302C

c.904C>T

6 papers

NM_012203.2

p.R302H

c.905G>A