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.M128T

c.383T>C

Surrounding Variants

2 papers

NM_006623.4

p.S127L

c.380C>T

3 papers

NM_006623.4

p.A126D

c.377C>A

1 paper

NM_006623.4

p.G131S

c.391G>A

1 paper

NM_006623.4

p.T125A

c.373A>G

3 papers

NM_006623.4

p.T125S

c.373A>T

1 paper

NM_006623.4

p.Q123R

c.368A>G

1 paper

NM_006623.4

p.W133*

c.399G>A

1 paper

NM_006623.4

p.E134K

c.400G>A

3 papers

NM_006623.4

p.P122H

c.365C>A

1 paper

NM_006623.4

p.P122S

c.364C>T

3 papers

NM_006623.4

p.R135G

c.403C>G

13 papers

NM_006623.4

p.R135W

c.403C>T