Varaico: Literature-Extracted Genetic Variants

Gene:AATK
Variant:p.L1059_Q1061del0

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.L1059_Q1061del0
c.3177_3182del6
Surrounding Variants
1 paper
NM_001080395.3
p.L1059_Q1061del3
c.3175_3182del9
1 paper
NM_001080395.3
p.S1066S
c.3198C>T
1 paper
NM_001080395.3
p.G1045R
c.3133G>C
1 paper
NM_001080395.3
p.G1045R
c.3133G>A
1 paper
NM_001080395.3
p.S1098P
c.3292T>C
1 paper
NM_001080395.3
p.K1014del1
c.3040_3042delCTT
1 paper
NM_001080395.3
p.E1116V
c.3347A>T
1 paper
NM_001080395.3
p.A1007T
c.3019G>A
1 paper
NM_001080395.3
p.E1006*
c.3016G>T
1 paper
NM_001080395.3
p.S1125L
c.3374C>T
1 paper
NM_001080395.3
p.G1137S
c.3409G>A
1 paper
NM_001080395.3
p.T1138N
c.3413C>A
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