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.S324delFs

c.971_972delGT

Surrounding Variants

1 paper

NM_012203.2

p.E325delFs

c.973delG

2 papers

NM_012203.2

p.E325K

c.973G>A

1 paper

NM_012203.2

p.E325E

c.975A>G

1 paper

NM_012203.2

p.L326delFs

c.976delC

2 papers

NM_012203.2

p.M322T

c.965T>C

6 papers

NM_012203.2

p.M322R

c.965T>G

1 paper

NM_012203.2

p.M322fs

c.964_965fs

1 paper

NM_012203.2

p.M322delFs

c.964_965delAT

2 papers

NM_012203.2

p.P321A

c.961C>G

1 paper

NM_012203.2

p.E320D

c.960G>T

2 papers

NM_012203.2

p.K327N

c.981G>C

2 papers

NM_012203.2

p.K327N

c.981G>T