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.R179K

c.536G>A

Surrounding Variants

5 papers

NM_012203.2

p.F180delFs

c.540delT

1 paper

NM_012203.2

p.Q178_R179delins

c.533_535delinsCGA

1 paper

NM_012203.2

p.R179delFs

c.536_537delGA

2 papers

NM_012203.2

p.Q178fs

c.532_533fs

3 papers

NM_012203.2

p.Q178delFs

c.532_533delCA

1 paper

NM_012203.2

p.L181fs

c.541_542fs

1 paper

NM_012203.2

p.Q178insFs

c.532dupC

1 paper

NM_012203.2

p.V177F

c.529G>T

1 paper

NM_012203.2

p.G184E

c.551G>A

1 paper

NM_012203.2

p.R185_Q186del2

c.553_557del6

1 paper

NM_012203.2

p.K173_P174delins

c.519_520delinsGA

1 paper

NM_012203.2

p.R185C

c.553C>T