Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.E248V

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.E248V
c.743A>T
Surrounding Variants
1 paper
NM_001413067.1
p.E248_P249insFs
c.744_745insGG
1 paper
NM_001413067.1
p.E248D
c.744G>C
1 paper
NM_001413067.1
p.P250T
c.748C>A
3 papers
NM_001413067.1
p.A246A
c.738T>A
1 paper
NM_001413067.1
p.V245I
c.733G>A
1 paper
NM_001413067.1
p.W251*
c.753G>A
1 paper
NM_001413067.1
p.V245L
c.733G>C
1 paper
NM_001413067.1
p.L243_K244insFs
c.729_730insTT
1 paper
NM_001413067.1
p.L243M
c.727C>A
1 paper
NM_001413067.1
p.L243_K244insA
c.727_731ins3
1 paper
NM_001413067.1
p.L243L
c.727C>T
1 paper
NM_001413067.1
p.F242insFs
c.725_726insG
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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."