Varaico: Literature-Extracted Genetic Variants

PHGDH

395 papers

RefSeq Summary

This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH ...

Pfam Domains

2-Hacid_dhaa 9–317UCSCD-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain

2-Hacid_dh_Caa 111–285UCSCD-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain

PGDH_interaa 328–420UCSCD-3-phosphoglycerate dehydrogenase intervening domain

Gene Aliases

HGNC Name

phosphoglycerate dehydrogenase

HGNC Alias Symbols

SERA; PGDH; PDG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006623.4

p.A286V

c.857C>T

Surrounding Variants

8 papers

NM_006623.4

p.A286P

c.856G>C

1 paper

NM_006623.4

p.K289Q

c.865A>C

1 paper

NM_006623.4

p.K289*

c.865A>T

2 papers

NM_006623.4

p.K289R

c.866A>G

1 paper

NM_006623.4

p.H283N

c.847C>A

1 paper

NM_006623.4

p.E290K

c.868G>A

1 paper

NM_006623.4

p.P282L

c.845C>T

2 papers

NM_006623.4

p.Q292*

c.874C>T

1 paper

NM_006623.4

p.V278V

c.834C>A

1 paper

NM_006623.4

p.R294C

c.880C>T

2 papers

NM_006623.4

p.R294H

c.881G>A

1 paper

NM_006623.4

p.E276K

c.826G>A