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.V116fs

c.346_347fs

Surrounding Variants

2 papers

NM_012203.2

p.V116I

c.346G>A

1 paper

NM_012203.2

p.V116F

c.346G>T

1 paper

NM_012203.2

p.V116insFs

c.346_347dupGT

1 paper

NM_012203.2

p.V116delFs

c.348delC

3 papers

NM_012203.2

p.A115E

c.344C>A

1 paper

NM_012203.2

p.S117insFs

c.349dupT

1 paper

NM_012203.2

p.A115G

c.344C>G

3 papers

NM_012203.2

p.S117P

c.349T>C

1 paper

NM_012203.2

p.S117fs

c.349_350fs

1 paper

NM_012203.2

p.S117_R125delFs

c.351_373del23

2 papers

NM_012203.2

p.L118_T122insFs

c.352_365dup14

1 paper

NM_012203.2

p.L118M

c.352C>A