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.W34*

c.102G>A

Surrounding Variants

1 paper

NM_012203.2

p.W34C

c.102G>C

1 paper

NM_012203.2

p.W34C

c.102G>T

1 paper

NM_012203.2

p.W34*

c.101G>A

4 papers

NM_012203.2

p.D35fs

c.103_104fs

6 papers

NM_012203.2

p.D35fs

c.103_104fs

32 papers

NM_012203.2

p.D35delFs

c.103delG

1 paper

NM_012203.2

p.S36*

c.107C>A

1 paper

NM_012203.2

p.Q33_W34insC

c.97_101ins3

1 paper

NM_012203.2

p.S36L

c.107C>T

1 paper

NM_012203.2

p.D37_I40Fs

c.109_118delinsCACFs

1 paper

NM_012203.2

p.E32del1

c.94_96delGAG

1 paper

NM_012203.2

p.E32_Q33del2

c.94_98del6