Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.E13*

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.E13*
c.37G>T
Surrounding Variants
1 paper
NM_001413067.1
p.E13D
c.39G>T
1 paper
NM_001413067.1
p.R14_I15insT
c.40_44ins3
8 papers
NM_001413067.1
p.P12A
c.34C>G
1 paper
NM_001413067.1
p.R14G
c.40C>G
1 paper
NM_001413067.1
p.R14L
c.41G>T
1 paper
NM_001413067.1
p.I15_T16delFs
c.44_48del5
1 paper
NM_001413067.1
p.L10L
c.30G>A
1 paper
NM_001413067.1
p.I15T
c.44T>C
2 papers
NM_001413067.1
p.L10P
c.29T>C
1 paper
NM_001413067.1
p.T16insFs
c.46_47insT
1 paper
NM_001413067.1
p.T16A
c.46A>G
1 paper
NM_001413067.1
p.L10V
c.28C>G
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