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.G483S

c.1447G>A

Surrounding Variants

1 paper

NM_006623.4

p.G483Splc

c.1447+1G>A

3 papers

NM_006623.4

p.G483Splc

c.1447+5G>A

1 paper

NM_006623.4

p.P479A

c.1435C>G

4 papers

NM_006623.4

p.M477fs

c.1429_1430fs

3 papers

NM_006623.4

p.M477insFs

c.1429dupA

1 paper

NM_006623.4

p.D474N

c.1420G>A

1 paper

NM_006623.4

p.S473A

c.1417T>G

3 papers

NM_006623.4

p.R469Q

c.1406G>A

1 paper

NM_006623.4

p.R469G

c.1405C>G

3 papers

NM_006623.4

p.R469W

c.1405C>T

1 paper

NM_006623.4

p.L465P

c.1394T>C

1 paper

NM_006623.4

p.R454G

c.1360A>G