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

1–12 of 348 variants

29 papers

NM_006623.4

p.V490M

c.1468G>A

20 papers

NM_006623.4

p.R163Q

c.488G>A

19 papers

NM_006623.4

p.V425M

c.1273G>A

14 papers

NM_006623.4

p.G140R

c.418G>A

14 papers

NM_006623.4

p.G140R

c.418G>C

14 papers

NM_006623.4

p.G377S

c.1129G>A

13 papers

NM_006623.4

p.R135W

c.403C>T

10 papers

NM_006623.4

p.A373T

c.1117G>A

9 papers

NM_006623.4

p.R54C

c.160C>T

9 papers

NM_006623.4

p.A248V

c.743C>T

9 papers

NM_006623.4

p.V261M

c.781G>A

9 papers

NM_006623.4

p.E265K

c.793G>A