Varaico: Literature-Extracted Genetic Variants

Gene:AADAT

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
1–12 of 47 variants
2 papers
NM_016228.4
p.S32L
c.95C>T
2 papers
NM_016228.4
p.Y74*
c.222T>G
2 papers
NM_016228.4
p.Y74*
c.222T>A
2 papers
NM_016228.4
p.L152L
c.456G>A
2 papers
NM_016228.4
p.L293*
c.878T>A
1 paper
NM_016228.4
p.S11C
c.31A>T
1 paper
NM_016228.4
p.T21A
c.61A>G
1 paper
NM_016228.4
p.D24V
c.71A>T
1 paper
NM_016228.4
p.S32*
c.95C>A
1 paper
NM_016228.4
p.L36S
c.107T>C
1 paper
NM_016228.4
p.A51A
c.153C>T
1 paper
NM_016228.4
p.V52I
c.154G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."