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.E190delFs

c.570delG

Surrounding Variants

1 paper

NM_012203.2

p.E190K

c.568G>A

1 paper

NM_012203.2

p.E190Q

c.568G>C

1 paper

NM_012203.2

p.E190insFs

c.569_570insA

1 paper

NM_012203.2

p.E191delFs

c.573delA

1 paper

NM_012203.2

p.R188K

c.563G>A

1 paper

NM_012203.2

p.A193insFs

c.577dupG

1 paper

NM_012203.2

p.A193delFs

c.577delG

1 paper

NM_012203.2

p.R188_P189del2

c.562_566del6

1 paper

NM_012203.2

p.P187H

c.560C>A

1 paper

NM_012203.2

p.P187ins1

c.560_561insGGT

1 paper

NM_012203.2

p.P187L

c.560C>T

2 papers

NM_012203.2

p.A193A

c.579A>G