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.N312fs

c.934_935fs

Surrounding Variants

2 papers

NM_012203.2

p.N312D

c.934A>G

1 paper

NM_012203.2

p.N312fs

c.934_935fs

1 paper

NM_012203.2

p.N312insFs

c.935dupA

1 paper

NM_012203.2

p.N311fs

c.931_932fs

1 paper

NM_012203.2

p.N311insFs

c.932dupA

1 paper

NM_012203.2

p.A310_N311insFs

c.930_931dupTA

1 paper

NM_012203.2

p.L314L

c.942G>A

1 paper

NM_012203.2

p.A315_R318ins1

c.943_954dup12

1 paper

NM_012203.2

p.A315_G316del1

c.944_946delCTG

1 paper

NM_012203.2

p.G316A

c.947G>C

1 paper

NM_012203.2

p.L317_G319insFs

c.949_956dup8

1 paper

NM_012203.2

p.L317L

c.949C>T