Varaico: Literature-Extracted Genetic Variants

Gene:AADAT
Variant:p.T21A

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.T21A
c.61A>G
Surrounding Variants
1 paper
NM_016228.4
p.S11C
c.31A>T
1 paper
NM_016228.4
p.D24V
c.71A>T
2 papers
NM_016228.4
p.S32L
c.95C>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
1 paper
NM_016228.4
p.T54fs
c.160_161fs
1 paper
NM_016228.4
p.V55A
c.164T>C
1 paper
NM_016228.4
p.T54_G58delFs
c.161_174del14
1 paper
NM_016228.4
p.G58_Q62delFs
c.173_186del14
1 paper
NM_016228.4
p.E66Q
c.196G>C
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