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.L245L

c.735G>A

Surrounding Variants

2 papers

NM_006623.4

p.A244T

c.730G>A

2 papers

NM_006623.4

p.A248T

c.742G>A

9 papers

NM_006623.4

p.A248V

c.743C>T

4 papers

NM_006623.4

p.L249P

c.746T>C

1 paper

NM_006623.4

p.Q250*

c.748C>T

1 paper

NM_006623.4

p.V240M

c.718G>A

1 paper

NM_006623.4

p.Q253R

c.758A>G

2 papers

NM_006623.4

p.G238fs

c.712_713fs

4 papers

NM_006623.4

p.G238delFs

c.712delG

1 paper

NM_006623.4

p.C254R

c.760T>C

1 paper

NM_006623.4

p.G237R

c.709G>A

4 papers

NM_006623.4

p.R236H

c.707G>A