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.L45V

c.133C>G

Surrounding Variants

1 paper

NM_012203.2

p.E46*

c.136G>T

1 paper

NM_012203.2

p.E46G

c.137A>G

3 papers

NM_012203.2

p.R47*

c.139C>T

1 paper

NM_012203.2

p.R47Q

c.140G>A

1 paper

NM_012203.2

p.A42insFs

c.126dupC

1 paper

NM_012203.2

p.A42delFs

c.126delC

1 paper

NM_012203.2

p.P41delFs

c.123delT

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.V49A

c.146T>C