Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.D19V

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.D19V
c.56A>T
Surrounding Variants
1 paper
NM_001413067.1
p.D19_Q20delFs
c.57_60del4
1 paper
NM_001413067.1
p.D19Y
c.55G>T
1 paper
NM_001413067.1
p.L18L
c.54G>A
1 paper
NM_001413067.1
p.D19_Q20del0
c.55_60del6
1 paper
NM_001413067.1
p.L18_H21delFs
c.54_61del8
2 papers
NM_001413067.1
p.L18M
c.52C>A
3 papers
NM_001413067.1
p.L18L
c.52C>T
1 paper
NM_001413067.1
p.L18_Q20delFs
c.53_60del8
1 paper
NM_001413067.1
p.H21N
c.61C>A
1 paper
NM_001413067.1
p.H21D
c.61C>G
1 paper
NM_001413067.1
p.L18_H21delFs
c.52_61del10
1 paper
NM_001413067.1
p.V17A
c.50T>C
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