Varaico: Literature-Extracted Genetic Variants

Gene:BCAT2
Variant:p.T186R

BCAT2

46 papers

RefSeq Summary

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, ...

Pfam Domains

Aminotran_4aa 100–350UCSCAmino-transferase class IV

Gene Aliases

HGNC Name

branched chain amino acid transaminase 2

HGNC Previous Symbol

BCT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001190.4
p.T186R
c.557C>G
Surrounding Variants
1 paper
NM_001190.4
p.P185_R187Fs
c.554_559delinsTGTGFs
2 papers
NM_001190.4
p.V182G
c.545T>G
3 papers
NM_001190.4
p.Y200*
c.600C>G
3 papers
NM_001190.4
p.Y200*
c.600C>A
1 paper
NM_001190.4
p.P215A
c.643C>G
1 paper
NM_001190.4
p.G175E
c.524G>A
5 papers
NM_001190.4
p.R170Q
c.509G>A
1 paper
NM_001190.4
p.T165P
c.493A>C
1 paper
NM_001190.4
p.G164D
c.491G>A
1 paper
NM_001190.4
p.L144F
c.432G>T
1 paper
NM_001190.4
p.L144F
c.432G>C
1 paper
NM_001284325.2
p.F99L
c.297C>G
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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."