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.I130delFs

c.389delT

Surrounding Variants

1 paper

NM_012203.2

p.I130M

c.390C>G

1 paper

NM_012203.2

p.A129T

c.385G>A

1 paper

NM_012203.2

p.V133delFs

c.397delG

1 paper

NM_012203.2

p.L126ins2

c.376_377ins6

1 paper

NM_012203.2

p.L126fs

c.376_377fs

1 paper

NM_012203.2

p.K134N

c.402G>C

1 paper

NM_012203.2

p.K134N

c.402G>T

1 paper

NM_012203.2

p.N135delFs

c.404delA

1 paper

NM_012203.2

p.N135fs

c.403_404fs

4 papers

NM_012203.2

p.R125delFs

c.375delG

1 paper

NM_012203.2

p.R125_P127delFs

c.374_381del8

1 paper

NM_012203.2

p.R124G

c.370C>G