Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.S54delFs

ATAT1

1,433 papers

RefSeq Summary

This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis ...

Pfam Domains

Acetyltransf_16aa 3–190UCSCGNAT acetyltransferase, Mec-17

Gene Aliases

HGNC Name

alpha tubulin acetyltransferase 1

HGNC Previous Symbol

C6orf134

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001413067.1
p.S54delFs
c.162delT
Surrounding Variants
3 papers
NM_001413067.1
p.S54F
c.161C>T
2 papers
NM_001413067.1
p.A55T
c.163G>A
1 paper
NM_001413067.1
p.A53V
c.158C>T
3 papers
NM_001413067.1
p.A53T
c.157G>A
1 paper
NM_001413067.1
p.K56*
c.166A>T
1 paper
NM_001413067.1
p.K52M
c.155A>T
1 paper
NM_001413067.1
p.G51G
c.153C>T
1 paper
NM_001413067.1
p.K56_A57Splc
c.168+1G>A
3 papers
NM_001413067.1
p.G51D
c.152G>A
1 paper
NM_001413067.1
p.L50Q
c.149T>A
1 paper
NM_001413067.1
p.L50P
c.149T>C
1 paper
NM_001413067.1
p.L50L
c.148C>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."