Varaico: Literature-Extracted Genetic Variants

Gene:BCAT1
Variant:p.H89Q

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.H89Q
c.267C>A
Surrounding Variants
2 papers
NM_005504.7
p.H89Q
c.267C>G
1 paper
NM_005504.7
p.Y90*
c.270T>G
1 paper
NM_005504.7
p.Y90*
c.270T>A
1 paper
NM_005504.7
p.P71L
c.212C>T
1 paper
NM_005504.7
p.E69K
c.205G>A
2 papers
NM_005504.7
p.E61A
c.182A>C
1 paper
NM_005504.7
p.T59M
c.176C>T
1 paper
NM_005504.7
p.V48delFs
c.143delA
1 paper
NM_005504.7
p.A35V
c.104C>T
1 paper
NM_005504.7
p.D29N
c.85G>A
1 paper
NM_005504.7
p.K26_A27Splc
c.79-9C>T
1 paper
NM_005504.7
p.K26N
c.78G>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."