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.V239fs

c.715_716fs

Surrounding Variants

2 papers

NM_012203.2

p.V239M

c.715G>A

1 paper

NM_012203.2

p.V239_F240del1

c.716_718delTGT

1 paper

NM_012203.2

p.A238insFs

c.713dupC

1 paper

NM_012203.2

p.A238_V239ins7

c.712_716ins21

1 paper

NM_012203.2

p.A238delFs

c.713delC

1 paper

NM_012203.2

p.F240L

c.720C>A

3 papers

NM_012203.2

p.E236V

c.707A>T

1 paper

NM_012203.2

p.N242insFs

c.725dupA

2 papers

NM_012203.2

p.M234T

c.701T>C

1 paper

NM_012203.2

p.R245delFs

c.733_734delAG

1 paper

NM_012203.2

p.R245Splc

c.734+1G>A

2 papers

NM_012203.2

p.Q232fs

c.694_695fs