Varaico: Literature-Extracted Genetic Variants

Gene:AATK
Variant:p.L260M

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.L260M
c.778C>A
Surrounding Variants
1 paper
NM_001080395.3
p.R257fs
c.769_770fs
1 paper
NM_001080395.3
p.R257delFs
c.769delG
1 paper
NM_001080395.3
p.Y272C
c.815A>G
1 paper
NM_001080395.3
p.R280K
c.839G>A
1 paper
NM_001080395.3
p.D288N
c.862G>A
1 paper
NM_001080395.3
p.A298T
c.892G>A
1 paper
NM_001080395.3
p.A298A
c.894G>A
1 paper
NM_001080395.3
p.E304delFs
c.911delT
2 papers
NM_001080395.3
p.V311V
c.933C>T
1 paper
NM_001080395.3
p.R246C
c.736C>T
1 paper
NM_001080395.3
p.R232H
c.695G>A
1 paper
NM_001080395.3
p.R215W
c.643C>T
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