Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.Q41Q

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.Q41Q
c.123G>A
Surrounding Variants
1 paper
NM_001413067.1
p.Q41H
c.123G>C
1 paper
NM_001413067.1
p.Q42*
c.124C>T
1 paper
NM_001413067.1
p.Q41K
c.121C>A
1 paper
NM_001413067.1
p.Q41E
c.121C>G
1 paper
NM_001413067.1
p.M44_D48del5
c.130_143del15
1 paper
NM_001413067.1
p.L39L
c.115C>T
1 paper
NM_001413067.1
p.D38A
c.113A>C
1 paper
NM_001413067.1
p.T45T
c.135C>A
2 papers
NM_001413067.1
p.V37D
c.110T>A
1 paper
NM_001413067.1
p.R36R
c.108T>C
1 paper
NM_001413067.1
p.R36R
c.108T>G
1 paper
NM_001413067.1
p.I47insFs
c.139dupA
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