Varaico: Literature-Extracted Genetic Variants

Gene:AATK
Variant:p.R891C

AATK

104 papers

RefSeq Summary

The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may...

Pfam Domains

PK_Tyr_Ser-Thraa 125–395UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

apoptosis associated tyrosine kinase

HGNC Alias Symbols

AATYK; KIAA0641; LMTK1; LMR1; AATYK1; PPP1R77

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080395.3
p.R891C
c.2671C>T
Surrounding Variants
1 paper
NM_001080395.3
p.V886V
c.2658G>T
1 paper
NM_001080395.3
p.S905_D907ins1
c.2713_2721dup9
1 paper
NM_001080395.3
p.D873N
c.2617G>A
2 papers
NM_001080395.3
p.P909L
c.2726C>T
1 paper
NM_001080395.3
p.S911del1
c.2731_2732delTGA
1 paper
NM_001080395.3
p.G869insFs
c.2606dupG
1 paper
NM_001080395.3
p.G869fs
c.2605_2606fs
1 paper
NM_001080395.3
p.S913N
c.2738G>A
1 paper
NM_001080395.3
p.S868*
c.2603C>G
1 paper
NM_001080395.3
p.S868*
c.2603C>A
1 paper
NM_001080395.3
p.Y917N
c.2749T>A
1 paper
NM_001080395.3
p.A864fs
c.2590_2591fs
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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."