Varaico: Literature-Extracted Genetic Variants

Gene:AATK
Variant:p.L200L

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
2 papers
NM_001080395.3
p.L200L
c.600G>C
Surrounding Variants
1 paper
NM_001080395.3
p.V195V
c.585G>A
1 paper
NM_001080395.3
p.V195M
c.583G>A
1 paper
NM_001080395.3
p.R178Splc
c.533+1G>A
1 paper
NM_001080395.3
p.Y177C
c.530A>G
1 paper
NM_001080395.3
p.Q175*
c.523C>T
1 paper
NM_001080395.3
p.E143V
c.428A>T
1 paper
NM_001080395.3
p.K138_V139Splc
c.414+71C>G
1 paper
NM_004920.3
p.F33C
c.98T>G
1 paper
NM_001080395.3
p.D119D
c.357C>T
1 paper
NM_001080395.3
p.R215W
c.643C>T
1 paper
NM_001080395.3
p.R232H
c.695G>A
1 paper
NM_001080395.3
p.R246C
c.736C>T
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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."