Varaico: Literature-Extracted Genetic Variants

Gene:BCAT1
Variant:p.C335S

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
2 papers
NM_005504.7
p.C335S
c.1003T>A
Surrounding Variants
2 papers
NM_005504.7
p.C335S
c.1004G>C
2 papers
NM_005504.7
p.C338S
c.1012T>A
2 papers
NM_005504.7
p.C338S
c.1013G>C
1 paper
NM_005504.7
p.P339S
c.1015C>T
1 paper
NM_005504.7
p.V325M
c.973G>A
1 paper
NM_005504.7
p.E348K
c.1042G>A
1 paper
NM_005504.7
p.E321K
c.961G>A
1 paper
NM_005504.7
p.T312S
c.935C>G
1 paper
NM_005504.7
p.T312S
c.934A>T
1 paper
NM_005504.7
p.T312A
c.934A>G
1 paper
NM_005504.7
p.K305R
c.914A>G
1 paper
NM_005504.7
p.E303K
c.907G>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."