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.G246D

c.737G>A

Surrounding Variants

1 paper

NM_012203.2

p.D247N

c.739G>A

4 papers

NM_012203.2

p.R245Splc

c.735-1G>A

1 paper

NM_012203.2

p.R245Splc

c.735-2A>G

1 paper

NM_012203.2

p.V248_V249del2

c.742_746del6

2 papers

NM_012203.2

p.V248I

c.742G>A

1 paper

NM_012203.2

p.V248delFs

c.743delT

1 paper

NM_012203.2

p.V248D

c.743T>A

1 paper

NM_012203.2

p.V248delFs

c.744delC

1 paper

NM_012203.2

p.N250Y

c.748A>T

1 paper

NM_012203.2

p.Q251delins

c.751_752delinsAA

1 paper

NM_012203.2

p.Q251Fs

c.752delinsAAFs

1 paper

NM_012203.2

p.Q251Q

c.753G>A