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.P277Fs

c.829_830delinsAFs

Surrounding Variants

1 paper

NM_012203.2

p.P277insFs

c.829_830insA

1 paper

NM_012203.2

p.P277Fs

c.830delinsAAFs

3 papers

NM_012203.2

p.L276Q

c.827T>A

1 paper

NM_012203.2

p.T278delFs

c.832delA

1 paper

NM_012203.2

p.T278_N279ins7

c.832_836ins21

1 paper

NM_012203.2

p.T278A

c.832A>G

1 paper

NM_012203.2

p.L276delins

c.826_827delinsGA

2 papers

NM_012203.2

p.T278K

c.833C>A

1 paper

NM_012203.2

p.T278delFs

c.834delA

1 paper

NM_012203.2

p.P275T

c.823C>A

1 paper

NM_012203.2

p.P275fs

c.823_824fs

1 paper

NM_012203.2

p.P275insFs

c.823_824dupCC