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.V11delFs

c.32_33delTC

Surrounding Variants

1 paper

NM_012203.2

p.V11insFs

c.31_32insT

9 papers

NM_012203.2

p.V11_T12insFs

c.33_34insC

1 paper

NM_012203.2

p.V11_T12insFs

c.33_34dupCA

3 papers

NM_012203.2

p.V11delFs

c.33delC

1 paper

NM_012203.2

p.F10S

c.29T>C

1 paper

NM_012203.2

p.T12insFs

c.34_35insC

1 paper

NM_012203.2

p.T12A

c.34A>G

1 paper

NM_012203.2

p.F10_V11ins5

c.28_32ins15

1 paper

NM_012203.2

p.V9insFs

c.26_27insA

1 paper

NM_012203.2

p.K8delins

c.23_24delinsAT

1 paper

NM_012203.2

p.V9del1

c.25_27delGTG

1 paper

NM_012203.2

p.R14insFs

c.40dupA