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.A297insFs

c.890_891dupCC

Surrounding Variants

1 paper

NM_012203.2

p.A297T

c.889G>A

1 paper

NM_012203.2

p.T298fs

c.892_893fs

1 paper

NM_012203.2

p.S296del1

c.886_888delAGT

1 paper

NM_012203.2

p.G295S

c.883G>A

1 paper

NM_012203.2

p.R300delFs

c.899delG

1 paper

NM_012203.2

p.R302delFs

c.904delC

1 paper

NM_012203.2

p.T301delins

c.901_903delinsGCG

6 papers

NM_012203.2

p.R302C

c.904C>T

1 paper

NM_012203.2

p.P292S

c.874C>T

6 papers

NM_012203.2

p.R302H

c.905G>A

1 paper

NM_012203.2

p.R302P

c.905G>C

1 paper

NM_012203.2

p.P292_H293del2

c.874_878del6