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.P41insFs

c.122dupC

Surrounding Variants

1 paper

NM_012203.2

p.I40T

c.119T>C

1 paper

NM_012203.2

p.P41delFs

c.122delC

1 paper

NM_012203.2

p.P39P

c.117C>A

1 paper

NM_012203.2

p.P41fs

c.121_122fs

1 paper

NM_012203.2

p.P41delFs

c.122_123delCT

1 paper

NM_012203.2

p.P41fs

c.121_122fs

1 paper

NM_012203.2

p.P41_L45delFs

c.122_135del14

1 paper

NM_012203.2

p.P41delFs

c.123delT

1 paper

NM_012203.2

p.P39S

c.115C>T

1 paper

NM_012203.2

p.A42insFs

c.126dupC

1 paper

NM_012203.2

p.P39insFs

c.116_117dupCC

1 paper

NM_012203.2

p.A42delFs

c.126delC