Varaico: Literature-Extracted Genetic Variants

Gene:AATK
Variant:p.A454A

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.A454A
c.1362G>A
Surrounding Variants
1 paper
NM_001080395.3
p.P448S
c.1342C>T
1 paper
NM_001080395.3
p.A443P
c.1327G>C
1 paper
NM_001080395.3
p.T467T
c.1401G>A
1 paper
NM_001080395.3
p.E478Q
c.1432G>C
1 paper
NM_001080395.3
p.G486S
c.1456G>A
1 paper
NM_001080395.3
p.P419H
c.1256C>A
1 paper
NM_001080395.3
p.R418L
c.1253G>T
1 paper
NM_001080395.3
p.G510G
c.1530C>T
1 paper
NM_001080395.3
p.A511T
c.1531G>A
1 paper
NM_001080395.3
p.A521T
c.1561G>A
1 paper
NM_001080395.3
p.R385fs
c.1153_1154fs
1 paper
NM_001080395.3
p.Q381*
c.1141C>T
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