Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.R269delFs

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.R269delFs
c.806delG
Surrounding Variants
1 paper
NM_001413067.1
p.R269P
c.806G>C
5 papers
NM_001413067.1
p.R269R
c.807C>T
1 paper
NM_001413067.1
p.P268L
c.803C>T
1 paper
NM_001413067.1
p.S270T
c.808T>A
1 paper
NM_001413067.1
p.S270P
c.808T>C
1 paper
NM_001413067.1
p.S270C
c.809C>G
1 paper
NM_001413067.1
p.S271R
c.811A>C
1 paper
NM_001413067.1
p.S271T
c.812G>C
1 paper
NM_001413067.1
p.S271R
c.813C>A
1 paper
NM_001413067.1
p.P266R
c.797C>G
1 paper
NM_001413067.1
p.S271R
c.813C>G
1 paper
NM_001413067.1
p.P266S
c.796C>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."