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

15 papers

NM_012203.2

p.G165D

c.494G>A

Surrounding Variants

1 paper

NM_012203.2

p.Q166delFs

c.496delC

1 paper

NM_012203.2

p.G165Splc

c.494-2A>G

1 paper

NM_012203.2

p.Q166fs

c.496_497fs

1 paper

NM_012203.2

p.A167delFs

c.501delC

1 paper

NM_012203.2

p.I168fs

c.502_503fs

1 paper

NM_012203.2

p.A169_R170insFs

c.507_508insA

1 paper

NM_012203.2

p.R171C

c.511C>T

2 papers

NM_012203.2

p.R171H

c.512G>A

1 paper

NM_012203.2

p.L172delFs

c.515delT

1 paper

NM_012203.2

p.L172fs

c.514_515fs

1 paper

NM_012203.2

p.K173_P174delins

c.519_520delinsGA

1 paper

NM_012203.2

p.V177F

c.529G>T