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.A221T

c.661G>A

Surrounding Variants

2 papers

NM_012203.2

p.A221P

c.661G>C

1 paper

NM_012203.2

p.A221_T222del1

c.662_664delCAA

1 paper

NM_012203.2

p.L218delFs

c.653delT

1 paper

NM_012203.2

p.G224E

c.671G>A

1 paper

NM_012203.2

p.L225_C226delFs

c.673_676del4

1 paper

NM_012203.2

p.S217insFs

c.651dupC

1 paper

NM_012203.2

p.C216Y

c.647G>A

1 paper

NM_012203.2

p.A215fs

c.643_644fs

1 paper

NM_012203.2

p.K228delFs

c.682_683delAA

2 papers

NM_012203.2

p.V214delFs

c.642delG

1 paper

NM_012203.2

p.V214_A215delFs

c.642_645del4

1 paper

NM_012203.2

p.K228E

c.682A>G