Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.G30delFs

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.G30delFs
c.89_90delGA
Surrounding Variants
1 paper
NM_001413067.1
p.G30_T32delFs
c.88_94del7
1 paper
NM_001413067.1
p.G30delFs
c.90delA
1 paper
NM_001413067.1
p.P29_G30delFs
c.87_88delCG
1 paper
NM_001413067.1
p.T31P
c.91A>C
1 paper
NM_001413067.1
p.P29Fs
c.85_87delinsTFs
1 paper
NM_001413067.1
p.P29_G30insFs
c.87_88insC
1 paper
NM_001413067.1
p.R28_P29insFs
c.84_85insG
1 paper
NM_001413067.1
p.P29_G30delFs
c.85_88del4
1 paper
NM_001413067.1
p.T31T
c.93C>T
2 papers
NM_001413067.1
p.R28Q
c.83G>A
1 paper
NM_001413067.1
p.R28ins1
c.83_84insTTA
1 paper
NM_001413067.1
p.R28_G30delFs
c.82_88del7
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