Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.K103N

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
4 papers
NM_001413067.1
p.K103N
c.309G>T
Surrounding Variants
1 paper
NM_001413067.1
p.K103K
c.309G>A
4 papers
NM_001413067.1
p.K103N
c.309G>C
1 paper
NM_001413067.1
p.L104insFs
c.310_311insC
2 papers
NM_001413067.1
p.K103R
c.308A>G
1 paper
NM_001413067.1
p.K103*
c.307A>T
1 paper
NM_001413067.1
p.L104R
c.311T>G
1 paper
NM_001413067.1
p.L104insFs
c.311_312insC
3 papers
NM_001413067.1
p.K102E
c.304A>G
1 paper
NM_001413067.1
p.F105_V106delFs
c.315_318del4
2 papers
NM_001413067.1
p.V106I
c.316G>A
1 paper
NM_001413067.1
p.G100R
c.298G>A
2 papers
NM_001413067.1
p.V99A
c.296T>C
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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."