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.A386T

c.1156G>A

Surrounding Variants

1 paper

NM_006623.4

p.Q385*

c.1153C>T

1 paper

NM_006623.4

p.K384R

c.1151A>G

1 paper

NM_006623.4

p.S383A

c.1147T>G

2 papers

NM_006623.4

p.L379P

c.1136T>C

2 papers

NM_006623.4

p.A393T

c.1177G>A

14 papers

NM_006623.4

p.G377S

c.1129G>A

1 paper

NM_006623.4

p.G377R

c.1129G>C

1 paper

NM_006623.4

p.V376L

c.1126G>C

1 paper

NM_006623.4

p.K398R

c.1193A>G

10 papers

NM_006623.4

p.A373T

c.1117G>A

1 paper

NM_006623.4

p.E399Q

c.1195G>C

1 paper

NM_006623.4

p.L402R

c.1205T>G