Varaico: Literature-Extracted Genetic Variants

Gene:BCAT2

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
1–12 of 54 variants
6 papers
NM_001190.4
p.E264K
c.790G>A
5 papers
NM_001190.4
p.R170Q
c.509G>A
5 papers
NM_001190.4
p.T186R
c.557C>G
4 papers
NM_001190.4
p.A385fs
c.1153_1154fs
3 papers
NM_001190.4
p.Y200*
c.600C>G
3 papers
NM_001190.4
p.Y200*
c.600C>A
2 papers
NM_001190.4
p.H46R
c.137A>G
2 papers
NM_001190.4
p.H46_P49del0
c.136_147del12
2 papers
NM_001190.4
p.Q100E
c.298C>G
2 papers
NM_001190.4
p.V182G
c.545T>G
2 papers
NM_001190.4
p.W254C
c.762G>T
2 papers
NM_001190.4
p.W254C
c.762G>C
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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."