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

1 paper

NM_006623.4

p.G77R

c.229G>C

Surrounding Variants

1 paper

NM_006623.4

p.T78A

c.232A>G

2 papers

NM_006623.4

p.A76S

c.226G>T

1 paper

NM_006623.4

p.R75S

c.225G>C

1 paper

NM_006623.4

p.R75delFs

c.225delG

1 paper

NM_006623.4

p.D81G

c.242A>G

2 papers

NM_006623.4

p.D81V

c.242A>T

1 paper

NM_006623.4

p.V72A

c.215T>C

1 paper

NM_006623.4

p.N82Y

c.244A>T

1 paper

NM_006623.4

p.N82S

c.245A>G

1 paper

NM_006623.4

p.D84Y

c.250G>T

1 paper

NM_006623.4

p.K69T

c.206A>C

1 paper

NM_006623.4

p.A87S

c.259G>T