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.K262N

c.786G>C

Surrounding Variants

1 paper

NM_012203.2

p.K262N

c.786G>T

1 paper

NM_012203.2

p.K262*

c.784A>T

1 paper

NM_012203.2

p.K262fs

c.784_785fs

2 papers

NM_012203.2

p.I263T

c.788T>C

1 paper

NM_012203.2

p.G261G

c.783T>A

1 paper

NM_012203.2

p.G261D

c.782G>A

1 paper

NM_012203.2

p.G261insFs

c.783dupT

1 paper

NM_012203.2

p.G261delFs

c.783delT

2 papers

NM_012203.2

p.G261Fs

c.781_782delinsTACFs

2 papers

NM_012203.2

p.G261fs

c.781_782fs

2 papers

NM_012203.2

p.A265T

c.793G>A

1 paper

NM_012203.2

p.S260insFs

c.780dupT