Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1

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
1–12 of 499 variants
10 papers
NM_001413067.1
p.P262P
c.786T>C
8 papers
NM_001413067.1
p.P12A
c.34C>G
7 papers
NM_001413067.1
p.L273P
c.818T>C
6 papers
NM_001413067.1
p.D157N
c.469G>A
5 papers
NM_001413067.1
p.A155T
c.463G>A
5 papers
NM_001413067.1
p.L201R
c.602T>G
5 papers
NM_001413067.1
p.R269R
c.807C>T
4 papers
NM_001413067.1
p.K103N
c.309G>C
4 papers
NM_001413067.1
p.K103N
c.309G>T
3 papers
NM_001413067.1
p.L18L
c.52C>T
3 papers
NM_001413067.1
p.G51D
c.152G>A
3 papers
NM_001413067.1
p.A53T
c.157G>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."