Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.Y148C

PSAT1

336 papers

RefSeq Summary

This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with...

Pfam Domains

Aminotran_5aa 7–357UCSCAminotransferase class-V

Gene Aliases

HGNC Name

phosphoserine aminotransferase 1

HGNC Alias Symbol

PSA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058179.4
p.Y148C
c.443A>G
Surrounding Variants
1 paper
NM_058179.4
p.Y148S
c.443A>C
1 paper
NM_058179.4
p.V149_Y150delFs
c.445_448del4
1 paper
NM_058179.4
p.Y148N
c.442T>A
2 papers
NM_058179.4
p.Y148H
c.442T>C
1 paper
NM_058179.4
p.Y148D
c.442T>G
2 papers
NM_058179.4
p.V149M
c.445G>A
2 papers
NM_058179.4
p.S147Y
c.440C>A
1 paper
NM_058179.4
p.S147C
c.440C>G
2 papers
NM_058179.4
p.S147F
c.440C>T
1 paper
NM_058179.4
p.V149E
c.446T>A
1 paper
NM_058179.4
p.V149A
c.446T>C
1 paper
NM_058179.4
p.V149G
c.446T>G
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