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.V289Splc

c.866-2A>G

Surrounding Variants

1 paper

NM_012203.2

p.V289Splc

c.866-2A>T

2 papers

NM_012203.2

p.V289delFs

c.866_867delTG

1 paper

NM_012203.2

p.V289_I290insFs

c.867_870dup4

10 papers

NM_012203.2

p.V289fs

c.865_866fs

1 paper

NM_012203.2

p.I290_I294insFs

c.869_882dup14

1 paper

NM_012203.2

p.L291fs

c.871_872fs

1 paper

NM_012203.2

p.L291P

c.872T>C

1 paper

NM_012203.2

p.P292_H293del2

c.874_878del6

1 paper

NM_012203.2

p.P292S

c.874C>T

1 paper

NM_012203.2

p.V289Splc

c.866-18T>C

1 paper

NM_012203.2

p.G295S

c.883G>A

1 paper

NM_012203.2

p.S296del1

c.886_888delAGT