Varaico: Literature-Extracted Genetic Variants

Gene:BCAT2
Variant:p.E264K

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
6 papers
NM_001190.4
p.E264K
c.790G>A
Surrounding Variants
2 papers
NM_001190.4
p.W254C
c.762G>T
2 papers
NM_001190.4
p.W254C
c.762G>C
1 paper
NM_001190.4
p.Y273C
c.818A>G
1 paper
NM_001190.4
p.W254R
c.760T>C
1 paper
NM_001190.4
p.Q251*
c.751C>T
1 paper
NM_001190.4
p.T285M
c.854C>T
1 paper
NM_001190.4
p.T285T
c.855G>T
1 paper
NM_001190.4
p.V296_R298delFs
c.887_894del8
1 paper
NM_001190.4
p.W308*
c.923G>A
1 paper
NM_001190.4
p.W308*
c.924G>A
1 paper
NM_001190.4
p.G309D
c.926G>A
1 paper
NM_001190.4
p.I318N
c.953T>A
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