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.W138R

c.412T>C

Surrounding Variants

1 paper

NM_012203.2

p.W138R

c.412T>A

1 paper

NM_012203.2

p.W138delFs

c.413delG

1 paper

NM_012203.2

p.T139_S140del1

c.416_418delCCT

1 paper

NM_012203.2

p.G136_G137ins1

c.408_409insGAG

1 paper

NM_012203.2

p.G136R

c.406G>C

1 paper

NM_012203.2

p.G136_G137insFs

c.406_410dup5

1 paper

NM_012203.2

p.N135Splc

c.405-1G>A

1 paper

NM_012203.2

p.W141C

c.423G>C

1 paper

NM_012203.2

p.W141C

c.423G>T

1 paper

NM_012203.2

p.W145fs

c.433_434fs

2 papers

NM_012203.2

p.W145_L146delFs

c.435_436delGC

1 paper

NM_012203.2

p.C147_G148delFs

c.441_442delTG