Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.V212L

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.V212L
c.634G>C
Surrounding Variants
1 paper
NM_001413067.1
p.D213fs
c.637_638fs
1 paper
NM_001413067.1
p.D213Y
c.637G>T
1 paper
NM_001413067.1
p.D213G
c.638A>G
1 paper
NM_001413067.1
p.P214H
c.641C>A
1 paper
NM_001413067.1
p.A209G
c.626C>G
1 paper
NM_001413067.1
p.T215A
c.643A>G
1 paper
NM_001413067.1
p.A209_A210insG
c.625_629ins3
1 paper
NM_001413067.1
p.A209S
c.625G>T
1 paper
NM_001413067.1
p.T215K
c.644C>A
1 paper
NM_001413067.1
p.T215R
c.644C>G
1 paper
NM_001413067.1
p.R208H
c.623G>A
2 papers
NM_001413067.1
p.R208C
c.622C>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."