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

3 papers

NM_012203.2

p.P203fs

c.607_608fs

Surrounding Variants

6 papers

NM_012203.2

p.P203delFs

c.608_609delCT

1 paper

NM_012203.2

p.E204G

c.611A>G

1 paper

NM_012203.2

p.V200Splc

c.599-1G>C

1 paper

NM_012203.2

p.A206fs

c.616_617fs

1 paper

NM_012203.2

p.Q208*

c.622C>T

2 papers

NM_012203.2

p.S209F

c.626C>T

1 paper

NM_012203.2

p.D210H

c.628G>C

1 paper

NM_012203.2

p.F211C

c.632T>G

1 paper

NM_012203.2

p.I212L

c.634A>C

1 paper

NM_012203.2

p.I212V

c.634A>G

1 paper

NM_012203.2

p.V213I

c.637G>A

1 paper

NM_012203.2

p.V213A

c.638T>C