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.E18K

c.52G>A

Surrounding Variants

2 papers

NM_012203.2

p.A17fs

c.49_50fs

2 papers

NM_012203.2

p.I15delFs

c.45delA

1 paper

NM_012203.2

p.I15L

c.43A>C

1 paper

NM_012203.2

p.I15L

c.43A>T

2 papers

NM_012203.2

p.A22T

c.64G>A

1 paper

NM_012203.2

p.R14insFs

c.40dupA

1 paper

NM_012203.2

p.L23F

c.67C>T

1 paper

NM_012203.2

p.L23P

c.68T>C

1 paper

NM_012203.2

p.L23Fs

c.69delinsTGAGAFs

2 papers

NM_012203.2

p.A24delFs

c.70delG

1 paper

NM_012203.2

p.T12insFs

c.34_35insC

1 paper

NM_012203.2

p.T12A

c.34A>G