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.G503R

c.1507G>C

Surrounding Variants

1 paper

NM_006623.4

p.G503R

c.1507G>A

1 paper

NM_006623.4

p.W506*

c.1517G>A

2 papers

NM_006623.4

p.W506*

c.1518G>A

1 paper

NM_006623.4

p.S498L

c.1493C>T

1 paper

NM_006623.4

p.V508I

c.1522G>A

1 paper

NM_006623.4

p.T497I

c.1490C>T

1 paper

NM_006623.4

p.S494F

c.1481C>T

1 paper

NM_006623.4

p.S494P

c.1480T>C

2 papers

NM_006623.4

p.S512A

c.1534T>G

1 paper

NM_006623.4

p.S513C

c.1538C>G

2 papers

NM_006623.4

p.S513F

c.1538C>T

1 paper

NM_006623.4

p.L493delFs

c.1477delC