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.G168delFs

c.504delG

Surrounding Variants

1 paper

NM_006623.4

p.M169V

c.505A>G

2 papers

NM_006623.4

p.S166F

c.497C>T

1 paper

NM_006623.4

p.S166P

c.496T>C

1 paper

NM_006623.4

p.K170E

c.508A>G

1 paper

NM_006623.4

p.K170R

c.509A>G

20 papers

NM_006623.4

p.R163Q

c.488G>A

6 papers

NM_006623.4

p.R163W

c.487C>T

1 paper

NM_006623.4

p.T162P

c.484A>C

1 paper

NM_006623.4

p.E159Q

c.475G>C

1 paper

NM_006623.4

p.I156T

c.467T>C

1 paper

NM_006623.4

p.K170_T171Splc

c.510+27G>A

1 paper

NM_006623.4

p.R155K

c.464G>A