Varaico: Literature-Extracted Genetic Variants

Gene:BCAT2
Variant:p.L122F

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.L122F
c.364C>T
Surrounding Variants
1 paper
NM_001190.4
p.R129L
c.386G>T
1 paper
NM_001190.4
p.Q114L
c.341A>T
1 paper
NM_001190.4
p.D112N
c.334G>A
1 paper
NM_001284325.2
p.F99L
c.295T>C
1 paper
NM_001284325.2
p.F99L
c.297C>G
1 paper
NM_001284325.2
p.F99L
c.297C>A
1 paper
NM_001190.4
p.L144F
c.432G>T
1 paper
NM_001190.4
p.L144F
c.432G>C
1 paper
NM_001190.4
p.G164D
c.491G>A
1 paper
NM_001190.4
p.T165P
c.493A>C
5 papers
NM_001190.4
p.R170Q
c.509G>A
1 paper
NM_001190.4
p.G175E
c.524G>A
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