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.R454G

c.1360A>G

Surrounding Variants

1 paper

NM_006623.4

p.G450V

c.1349G>T

1 paper

NM_006623.4

p.L445fs

c.1333_1334fs

1 paper

NM_006623.4

p.V444A

c.1331T>C

1 paper

NM_006623.4

p.V444L

c.1330G>C

3 papers

NM_006623.4

p.T442T

c.1326G>A

1 paper

NM_006623.4

p.L465P

c.1394T>C

1 paper

NM_006623.4

p.T442M

c.1325C>T

1 paper

NM_006623.4

p.R469G

c.1405C>G

3 papers

NM_006623.4

p.R469W

c.1405C>T

3 papers

NM_006623.4

p.R469Q

c.1406G>A

1 paper

NM_006623.4

p.G436D

c.1307G>A

1 paper

NM_006623.4

p.S473A

c.1417T>G