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.R124C

c.370C>T

Surrounding Variants

1 paper

NM_012203.2

p.R124G

c.370C>G

1 paper

NM_012203.2

p.R124fs

c.370_371fs

4 papers

NM_012203.2

p.R125delFs

c.375delG

1 paper

NM_012203.2

p.R125_P127delFs

c.374_381del8

1 paper

NM_012203.2

p.L126ins2

c.376_377ins6

1 paper

NM_012203.2

p.L126fs

c.376_377fs

1 paper

NM_012203.2

p.T122_C123del2

c.364_368del6

1 paper

NM_012203.2

p.T121fs

c.361_362fs

1 paper

NM_012203.2

p.T121insFs

c.361dupA

1 paper

NM_012203.2

p.L119Q

c.356T>A

1 paper

NM_012203.2

p.L119R

c.356T>G

1 paper

NM_012203.2

p.A129T

c.385G>A