Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.E57D

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.E57D
c.171G>C
Surrounding Variants
1 paper
NM_058179.4
p.E57D
c.171G>T
1 paper
NM_058179.4
p.E57A
c.170A>C
1 paper
NM_058179.4
p.N58H
c.172A>C
1 paper
NM_058179.4
p.E57G
c.170A>G
1 paper
NM_058179.4
p.E57V
c.170A>T
1 paper
NM_058179.4
p.N58Y
c.172A>T
1 paper
NM_058179.4
p.N58T
c.173A>C
1 paper
NM_058179.4
p.N58I
c.173A>T
1 paper
NM_058179.4
p.E57K
c.169G>A
1 paper
NM_058179.4
p.E57Q
c.169G>C
1 paper
NM_058179.4
p.N58K
c.174T>A
1 paper
NM_058179.4
p.N58K
c.174T>G
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