Varaico: Literature-Extracted Genetic Variants

Gene:AADAT
Variant:p.G268Splc

AADAT

35 papers

RefSeq Summary

This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination ...

Pfam Domains

Aminotran_1_2aa 44–417UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

aminoadipate aminotransferase

HGNC Alias Symbols

KATII; KAT2; KYAT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016228.4
p.G268Splc
c.803+221C>A
Surrounding Variants
1 paper
NM_016228.4
p.G268Splc
c.804-7C>A
1 paper
NM_016228.4
p.S262A
c.784T>G
1 paper
NM_016228.4
p.S262T
c.784T>A
1 paper
NM_016228.4
p.R270T
c.809G>C
1 paper
NM_016228.4
p.L274*
c.821T>G
1 paper
NM_016228.4
p.L274*
c.821T>A
1 paper
NM_016228.4
p.P277L
c.830C>T
1 paper
NM_016228.4
p.P279S
c.835C>T
2 papers
NM_016228.4
p.L293*
c.878T>A
1 paper
NM_016228.4
p.H294Y
c.880C>T
1 paper
NM_016228.4
p.E229*
c.685G>T
1 paper
NM_016228.4
p.S327G
c.979A>G
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