Varaico: Literature-Extracted Genetic Variants

Gene:KATNAL2
Variant:p.A48_L49del1

KATNAL2

37 papers

Pfam Domains

LisHaa 27–53UCSCLisH
LisHaa 27–53UCSCLisH
AAAaa 290–422UCSCATPase family associated with various cellular activities (AAA)
AAA_lid_3aa 450–494UCSCAAA+ lid domain

Gene Aliases

HGNC Name

katanin catalytic subunit A1 like 2

HGNC Alias Symbols

MGC33211; DKFZP667C165

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387690.1
p.A48_L49del1
c.143_145delCTT
Surrounding Variants
1 paper
NM_001387690.1
p.A46T
c.136G>A
1 paper
NM_001387690.1
p.E50insFs
c.149dupA
1 paper
NM_001387690.1
p.Y42F
c.125A>T
1 paper
NM_001387690.1
p.M73I
c.219G>A
1 paper
NM_001387690.1
p.M73I
c.219G>C
1 paper
NM_001387690.1
p.M73I
c.219G>T
1 paper
NM_001387690.1
p.S77G
c.229A>G
1 paper
NM_001387690.1
p.Q84*
c.250C>T
1 paper
NM_031303.3
p.K19E
c.55A>G
1 paper
NM_031303.3
p.K19*
c.55A>T
1 paper
NM_031303.3
p.A25Splc
c.73+489G>A
1 paper
NM_001387690.1
p.L101insFs
c.302dupT
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