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.M1Fs

c.1delinsTTFs

Surrounding Variants

1 paper

NM_012203.2

p.M1fs

c.1_2fs

1 paper

NM_012203.2

p.M1insFs

c.2dupT

1 paper

NM_012203.2

p.M1L

c.1A>T

3 papers

NM_012203.2

p.M1T

c.2T>C

1 paper

NM_012203.2

p.M1R

c.2T>G

1 paper

NM_012203.2

p.M1delins

c.2_3delinsAT

1 paper

NM_012203.2

p.M1I

c.3G>A

2 papers

NM_012203.2

p.M1Fs

c.3delinsATFs

1 paper

NM_012203.2

p.M1I

c.3G>T

1 paper

NM_012203.2

p.R2Fs

c.4delinsCCCFs

1 paper

NM_012203.2

p.R2delins

c.5delinsCTTT

1 paper

NM_012203.2

p.P3S

c.7C>T