Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.C80S

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.C80S
c.239G>C
Surrounding Variants
1 paper
NM_058179.4
p.C80W
c.240C>G
1 paper
NM_058179.4
p.C80S
c.238T>A
2 papers
NM_058179.4
p.C80R
c.238T>C
1 paper
NM_058179.4
p.C80G
c.238T>G
1 paper
NM_058179.4
p.G81S
c.241G>A
1 paper
NM_058179.4
p.G81C
c.241G>T
1 paper
NM_058179.4
p.G79E
c.236G>A
1 paper
NM_058179.4
p.G79A
c.236G>C
1 paper
NM_058179.4
p.G79V
c.236G>T
1 paper
NM_058179.4
p.G81V
c.242G>T
3 papers
NM_058179.4
p.G79R
c.235G>A
3 papers
NM_058179.4
p.G79R
c.235G>C
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