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.E420K

c.1258G>A

Surrounding Variants

1 paper

NM_006623.4

p.G419G

c.1257G>A

1 paper

NM_006623.4

p.G419R

c.1255G>A

1 paper

NM_006623.4

p.G419R

c.1255G>C

3 papers

NM_006623.4

p.C421W

c.1263C>G

1 paper

NM_006623.4

p.Q416K

c.1246C>A

19 papers

NM_006623.4

p.V425M

c.1273G>A

1 paper

NM_006623.4

p.P413S

c.1237C>T

1 paper

NM_006623.4

p.A412fs

c.1234_1235fs

1 paper

NM_006623.4

p.A428V

c.1283C>T

8 papers

NM_006623.4

p.G429V

c.1286G>T

1 paper

NM_006623.4

p.G429G

c.1287C>T

1 paper

NM_006623.4

p.A430insFs

c.1288_1289insTA