Varaico: Literature-Extracted Genetic Variants

Gene:BCAT1
Variant:p.K26N

BCAT1

65 papers

RefSeq Summary

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-am...

Pfam Domains

Aminotran_4aa 93–343UCSCAmino-transferase class IV

Gene Aliases

HGNC Name

branched chain amino acid transaminase 1

HGNC Previous Symbol

BCT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005504.7
p.K26N
c.78G>T
Surrounding Variants
1 paper
NM_005504.7
p.V21M
c.61G>A
1 paper
NM_005504.7
p.E20D
c.60G>T
1 paper
NM_005504.7
p.E20D
c.60G>C
1 paper
NM_005504.7
p.K19R
c.56A>G
1 paper
NM_005504.7
p.S18L
c.53C>T
1 paper
NM_005504.7
p.E15V
c.44A>T
1 paper
NM_005504.7
p.S9F
c.26C>T
1 paper
NM_005504.7
p.K26_A27Splc
c.79-9C>T
1 paper
NM_005504.7
p.D29N
c.85G>A
1 paper
NM_005504.7
p.A35V
c.104C>T
1 paper
NM_005504.7
p.V48delFs
c.143delA
1 paper
NM_005504.7
p.T59M
c.176C>T
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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."