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.F199delFs

c.597delT

Surrounding Variants

2 papers

NM_012203.2

p.E198A

c.593A>C

1 paper

NM_012203.2

p.F199fs

c.595_596fs

1 paper

NM_012203.2

p.E198fs

c.592_593fs

1 paper

NM_012203.2

p.E198delFs

c.593_594delAG

1 paper

NM_012203.2

p.V200L

c.598G>C

1 paper

NM_012203.2

p.V200L

c.598G>T

2 papers

NM_012203.2

p.V200Splc

c.598+1G>T

1 paper

NM_012203.2

p.A197fs

c.589_590fs

1 paper

NM_012203.2

p.Q196Q

c.588G>A

1 paper

NM_012203.2

p.A197delFs

c.589delG

1 paper

NM_012203.2

p.F195C

c.584T>G

3 papers

NM_012203.2

p.E194K

c.580G>A