Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.R205_S207delFs

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.R205_S207delFs
c.613_619del7
Surrounding Variants
1 paper
NM_001413067.1
p.A203V
c.608C>T
1 paper
NM_001413067.1
p.T204I
c.611C>T
1 paper
NM_001413067.1
p.R202S
c.606G>C
1 paper
NM_001413067.1
p.R202_A203insT
c.604_608ins3
1 paper
NM_001413067.1
p.R205Q
c.614G>A
1 paper
NM_001413067.1
p.L201Q
c.602T>A
5 papers
NM_001413067.1
p.L201R
c.602T>G
1 paper
NM_001413067.1
p.H206R
c.617A>G
1 paper
NM_001413067.1
p.L201V
c.601C>G
1 paper
NM_001413067.1
p.S200S
c.600T>G
1 paper
NM_001413067.1
p.S200F
c.599C>T
2 papers
NM_001413067.1
p.S207Y
c.620C>A
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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."