Varaico: Literature-Extracted Genetic Variants

Gene:ABT1
Variant:p.S124I

ABT1

23 papers

RefSeq Summary

Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded ...

Pfam Domains

ESF2_Caa 154–198UCSCPre-rRNA-processing protein ESF2 C-terminal domain
ABT1_Caa 216–248UCSCABT1 C-terminal domain

Gene Aliases

HGNC Name

activator of basal transcription 1

HGNC Alias Symbol

Esf2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013375.4
p.S124I
c.371G>T
Surrounding Variants
1 paper
NM_013375.4
p.R120H
c.359G>A
1 paper
NM_013375.4
p.G131C
c.391G>T
2 papers
NM_013375.4
p.R135C
c.403C>T
1 paper
NM_013375.4
p.R135H
c.404G>A
1 paper
NM_013375.4
p.L145F
c.433C>T
1 paper
NM_013375.4
p.R99Q
c.296G>A
1 paper
NM_013375.4
p.G96E
c.287G>A
1 paper
NM_013375.4
p.R164C
c.490C>T
1 paper
NM_013375.4
p.A173V
c.518C>T
1 paper
NM_013375.4
p.E181K
c.541G>A
1 paper
NM_013375.4
p.T182P
c.544A>C
1 paper
NM_013375.4
p.T210T
c.630A>G
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