Varaico: Literature-Extracted Genetic Variants

Gene:BCAT2
Variant:p.S92Y

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
1 paper
NM_001190.4
p.S92Y
c.275C>A
Surrounding Variants
2 papers
NM_001190.4
p.Q100E
c.298C>G
1 paper
NM_001190.4
p.D63N
c.187G>A
2 papers
NM_001190.4
p.H46_P49del0
c.136_147del12
2 papers
NM_001190.4
p.H46R
c.137A>G
1 paper
NM_001190.4
p.K44R
c.131A>G
1 paper
NM_001190.4
p.K44Q
c.130A>C
1 paper
NM_001190.4
p.K33_A34Splc
c.99+2T>C
1 paper
NM_001190.4
p.W19C
c.57G>T
1 paper
NM_001190.4
p.W19C
c.57G>C
1 paper
NM_001190.4
p.R12*
c.34C>T
1 paper
NM_001190.4
p.W10*
c.30G>A
1 paper
NM_001190.4
p.W10*
c.29G>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."