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.N287delins

c.860_861delinsCG

Surrounding Variants

22 papers

NM_012203.2

p.C288_V289delFs

c.864_865delTG

1 paper

NM_012203.2

p.C288delFs

c.863delG

1 paper

NM_012203.2

p.C288fs

c.862_863fs

1 paper

NM_012203.2

p.V289Splc

c.865+1G>T

1 paper

NM_012203.2

p.T284I

c.851C>T

1 paper

NM_012203.2

p.T284_L285delFs

c.852_855del4

1 paper

NM_012203.2

p.T284fs

c.850_851fs

1 paper

NM_012203.2

p.L283insFs

c.849dupG

1 paper

NM_012203.2

p.L283delFs

c.847delC

1 paper

NM_012203.2

p.L282F

c.844C>T

2 papers

NM_012203.2

p.P281S

c.841C>T

1 paper

NM_012203.2

p.H280delFs

c.838delC