Varaico: Literature-Extracted Genetic Variants

Gene:KATNAL1
Variant:p.L123V

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.L123V
c.367C>G
Surrounding Variants
1 paper
NM_032116.5
p.R118*
c.352C>T
1 paper
NM_032116.5
p.A132P
c.394G>C
1 paper
NM_032116.5
p.A132V
c.395C>T
1 paper
NM_032116.5
p.A109S
c.325G>T
1 paper
NM_032116.5
p.A109P
c.325G>C
1 paper
NM_032116.5
p.I142M
c.426A>G
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