Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.E174K

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.E174K
c.520G>A
Surrounding Variants
1 paper
NM_001413067.1
p.E174A
c.521A>C
1 paper
NM_001413067.1
p.N172S
c.515A>G
1 paper
NM_001413067.1
p.T175T
c.525C>G
2 papers
NM_001413067.1
p.V177_P178insT
c.529_533ins3
1 paper
NM_001413067.1
p.Y171H
c.511T>C
1 paper
NM_001413067.1
p.H170H
c.510C>T
1 paper
NM_001413067.1
p.P178A
c.532C>G
1 paper
NM_001413067.1
p.Q179K
c.535C>A
1 paper
NM_001413067.1
p.Q179*
c.535C>T
1 paper
NM_001413067.1
p.N168N
c.504T>C
1 paper
NM_001413067.1
p.L167_N168del1
c.501_503delGAA
1 paper
NM_001413067.1
p.F166_K169del0
c.498_506del9
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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."