Varaico: Literature-Extracted Genetic Variants

Gene:KATNAL1
Variant:p.V199_S200delFs

KATNAL1

46 papers

Pfam Domains

KATNA1_MITaa 6–69UCSCKatanin p60 subunit A1, MIT domain
AAAaa 244–380UCSCATPase family associated with various cellular activities (AAA)
AAA_lid_3aa 402–446UCSCAAA+ lid domain
Vps4_Caa 439–488UCSCVps4 C terminal oligomerisation domain

Gene Aliases

HGNC Name

katanin catalytic subunit A1 like 1

HGNC Alias Symbol

MGC2599

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032116.5
p.V199_S200delFs
c.597_598delAT
Surrounding Variants
1 paper
NM_032116.5
p.S200fs
c.598_599fs
1 paper
NM_032116.5
p.V199fs
c.595_596fs
1 paper
NM_032116.5
p.I198T
c.593T>C
1 paper
NM_032116.5
p.E177A
c.530A>C
1 paper
NM_032116.5
p.D232Y
c.694G>T
1 paper
NM_032116.5
p.W241L
c.722G>T
1 paper
NM_032116.5
p.A260S
c.778G>T
1 paper
NM_032116.5
p.N271N
c.813C>T
1 paper
NM_032116.5
p.V272I
c.814G>A
1 paper
NM_032116.5
p.S275T
c.823T>A
1 paper
NM_032116.5
p.G283D
c.848G>A
1 paper
NM_032116.5
p.M295I
c.885G>T
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