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

9 papers

NM_006623.4

p.R54C

c.160C>T

Surrounding Variants

3 papers

NM_006623.4

p.S55P

c.163T>C

1 paper

NM_006623.4

p.S55A

c.163T>G

3 papers

NM_006623.4

p.S55F

c.164C>T

1 paper

NM_006623.4

p.A56T

c.166G>A

1 paper

NM_006623.4

p.L51H

c.152T>A

2 papers

NM_006623.4

p.L51P

c.152T>C

1 paper

NM_006623.4

p.T57A

c.169A>G

1 paper

NM_006623.4

p.K58R

c.173A>G

1 paper

NM_006623.4

p.K58K

c.174G>A

1 paper

NM_006623.4

p.V59M

c.175G>A

1 paper

NM_006623.4

p.V59G

c.176T>G

1 paper

NM_006623.4

p.T60A

c.178A>G