Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.M1V

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
2 papers
NM_001413067.1
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001413067.1
p.M1insFs
c.2_3insT
1 paper
NM_001413067.1
p.M1delFs
c.2delT
1 paper
NM_001413067.1
p.M1K
c.2T>A
1 paper
NM_001413067.1
p.M1insFs
c.3dupG
2 papers
NM_001413067.1
p.M1I
c.3G>T
1 paper
NM_001413067.1
p.E2K
c.4G>A
1 paper
NM_001413067.1
p.E2insFs
c.5_6ins4
1 paper
NM_001413067.1
p.E2V
c.5A>T
1 paper
NM_001413067.1
p.E2delins
c.6delinsA
1 paper
NM_001413067.1
p.E2_F3insFs
c.6_7insA
1 paper
NM_001413067.1
p.E2D
c.6G>T
1 paper
NM_001413067.1
p.F3V
c.7T>G
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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."