Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.R255S

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
3 papers
NM_001413067.1
p.R255S
c.765G>C
Surrounding Variants
1 paper
NM_001413067.1
p.R255K
c.764G>A
1 paper
NM_001413067.1
p.R255_A256del1
c.764_766delGGG
1 paper
NM_001413067.1
p.R258G
c.772C>G
1 paper
NM_001413067.1
p.R258C
c.772C>T
1 paper
NM_001413067.1
p.W251*
c.753G>A
1 paper
NM_001413067.1
p.P250T
c.748C>A
1 paper
NM_001413067.1
p.E248D
c.744G>C
10 papers
NM_001413067.1
p.P262P
c.786T>C
1 paper
NM_001413067.1
p.E248_P249insFs
c.744_745insGG
1 paper
NM_001413067.1
p.E248V
c.743A>T
3 papers
NM_001413067.1
p.A246A
c.738T>A
1 paper
NM_001413067.1
p.H265fs
c.793_794fs
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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."