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.Q256R

c.767A>G

Surrounding Variants

1 paper

NM_012203.2

p.A257insFs

c.769dupG

1 paper

NM_012203.2

p.Q256fs

c.766_767fs

1 paper

NM_012203.2

p.Q256*

c.766C>T

2 papers

NM_012203.2

p.Q256fs

c.766_767fs

1 paper

NM_012203.2

p.A257delFs

c.769_770delGC

1 paper

NM_012203.2

p.A257fs

c.769_770fs

2 papers

NM_012203.2

p.Q256delFs

c.766delC

2 papers

NM_012203.2

p.L258_S272del15

c.772_815del45

1 paper

NM_012203.2

p.L254P

c.761T>C

1 paper

NM_012203.2

p.L258F

c.774G>T

1 paper

NM_012203.2

p.D253E

c.759C>A

1 paper

NM_012203.2

p.D253E

c.759C>G