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

3 papers

NM_012203.2

p.Q153*

c.457C>T

Surrounding Variants

1 paper

NM_012203.2

p.S154delFs

c.460delA

2 papers

NM_012203.2

p.T152fs

c.454_455fs

2 papers

NM_012203.2

p.T152insFs

c.454dupA

1 paper

NM_012203.2

p.T152_T155del0

c.456_464del9

1 paper

NM_012203.2

p.L151fs

c.451_452fs

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.G150delFs

c.448delG

1 paper

NM_012203.2

p.G157delFs

c.469delG

1 paper

NM_012203.2

p.G157C

c.469G>T

1 paper

NM_012203.2

p.Y149_T152delFs

c.447_454del8

1 paper

NM_012203.2

p.Y149delFs

c.445delT