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.L6F

c.16C>T

Surrounding Variants

2 papers

NM_012203.2

p.R5*

c.13C>T

1 paper

NM_012203.2

p.V4insFs

c.10_11ins5

1 paper

NM_012203.2

p.V9del1

c.25_27delGTG

1 paper

NM_012203.2

p.P3Fs

c.8delinsTGCATGCAAGATFs

1 paper

NM_012203.2

p.K8delins

c.23_24delinsAT

1 paper

NM_012203.2

p.P3S

c.7C>T

1 paper

NM_012203.2

p.V9insFs

c.26_27insA

1 paper

NM_012203.2

p.R2delins

c.5delinsCTTT

1 paper

NM_012203.2

p.R2Fs

c.4delinsCCCFs

1 paper

NM_012203.2

p.F10_V11ins5

c.28_32ins15

1 paper

NM_012203.2

p.M1I

c.3G>A

2 papers

NM_012203.2

p.M1Fs

c.3delinsATFs