Varaico: Literature-Extracted Genetic Variants

Gene:ABT1

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
1–12 of 23 variants
2 papers
NM_013375.4
p.R135C
c.403C>T
1 paper
NM_013375.4
p.A10S
c.28G>T
1 paper
NM_013375.4
p.Q29*
c.85C>T
1 paper
NM_013375.4
p.H52L
c.155A>T
1 paper
NM_013375.4
p.R58W
c.172C>T
1 paper
NM_013375.4
p.S67R
c.199A>C
1 paper
NM_013375.4
p.S67R
c.201C>A
1 paper
NM_013375.4
p.S67R
c.201C>G
1 paper
NM_013375.4
p.G96E
c.287G>A
1 paper
NM_013375.4
p.R99Q
c.296G>A
1 paper
NM_013375.4
p.R120H
c.359G>A
1 paper
NM_013375.4
p.S124I
c.371G>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."