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.K228E

c.682A>G

Surrounding Variants

1 paper

NM_012203.2

p.K228fs

c.682_683fs

1 paper

NM_012203.2

p.K228delFs

c.682_683delAA

1 paper

NM_012203.2

p.D229_F230del1

c.686_688delACT

1 paper

NM_012203.2

p.L225_C226delFs

c.673_676del4

2 papers

NM_012203.2

p.Q232delFs

c.694delC

1 paper

NM_012203.2

p.F231L

c.693C>G

1 paper

NM_012203.2

p.G224E

c.671G>A

2 papers

NM_012203.2

p.Q232fs

c.694_695fs

2 papers

NM_012203.2

p.M234T

c.701T>C

1 paper

NM_012203.2

p.A221T

c.661G>A

2 papers

NM_012203.2

p.A221P

c.661G>C

1 paper

NM_012203.2

p.A221_T222del1

c.662_664delCAA