Varaico: Literature-Extracted Genetic Variants

Gene:AATK
Variant:p.E1219Q

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.E1219Q
c.3655G>C
Surrounding Variants
1 paper
NM_001080395.3
p.E1219D
c.3657G>T
1 paper
NM_001080395.3
p.E1219D
c.3657G>C
1 paper
NM_001080395.3
p.D1224Y
c.3670G>T
1 paper
NM_001080395.3
p.K1229ins2
c.3685_3686ins6
1 paper
NM_001080395.3
p.R1205H
c.3614G>A
1 paper
NM_001080395.3
p.T1239I
c.3716C>T
1 paper
NM_001080395.3
p.L1242H
c.3725T>A
1 paper
NM_001080395.3
p.A1193A
c.3579G>C
1 paper
NM_001080395.3
p.P1192S
c.3574C>T
1 paper
NM_001080395.3
p.E1190V
c.3569A>T
1 paper
NM_001080395.3
p.D1169D
c.3507C>T
1 paper
NM_001080395.3
p.E1163del1
c.3487_3488delCTC
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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."