Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.D8V

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.D8V
c.23A>T
Surrounding Variants
1 paper
NM_001413067.1
p.D8E
c.24C>A
2 papers
NM_001413067.1
p.D8D
c.24C>T
1 paper
NM_001413067.1
p.A9S
c.25G>T
1 paper
NM_001413067.1
p.V7A
c.20T>C
1 paper
NM_001413067.1
p.A9A
c.27G>A
1 paper
NM_001413067.1
p.V7L
c.19G>T
1 paper
NM_001413067.1
p.L10V
c.28C>G
1 paper
NM_001413067.1
p.D6E
c.18T>A
1 paper
NM_001413067.1
p.D6A
c.17A>C
2 papers
NM_001413067.1
p.L10P
c.29T>C
1 paper
NM_001413067.1
p.L10L
c.30G>A
1 paper
NM_001413067.1
p.D6Y
c.16G>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."