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

2 papers

NM_012203.2

p.R163H

c.488G>A

Surrounding Variants

2 papers

NM_012203.2

p.G162R

c.484G>A

15 papers

NM_012203.2

p.G165D

c.494G>A

1 paper

NM_012203.2

p.G165Splc

c.493+2T>A

2 papers

NM_012203.2

p.G160E

c.479G>A

5 papers

NM_012203.2

p.G160R

c.478G>A

4 papers

NM_012203.2

p.G160R

c.478G>C

1 paper

NM_012203.2

p.G157C

c.469G>T

1 paper

NM_012203.2

p.G157delFs

c.469delG

2 papers

NM_012203.2

p.V156I

c.466G>A

1 paper

NM_012203.2

p.V156L

c.466G>C

1 paper

NM_012203.2

p.S154delFs

c.460delA

3 papers

NM_012203.2

p.Q153*

c.457C>T