Varaico: Literature-Extracted Genetic Variants

KATNA1

55 papers

RefSeq Summary

Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consi...

Pfam Domains

KATNA1_MITaa 6–69UCSCKatanin p60 subunit A1, MIT domain

AAAaa 245–381UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 403–447UCSCAAA+ lid domain

Vps4_Caa 440–489UCSCVps4 C terminal oligomerisation domain

Gene Aliases

HGNC Name

katanin catalytic subunit A1

HGNC Previous Names

katanin p60 (ATPase-containing) subunit A 1; katanin p60 (ATPase containing) subunit A 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007044.4

p.R207*

c.619C>T

Surrounding Variants

1 paper

NM_007044.4

p.V206delFs

c.616delC

1 paper

NM_007044.4

p.S201_Q202insFs

c.603_604insG

1 paper

NM_007044.4

p.L195F

c.585G>T

1 paper

NM_007044.4

p.L195F

c.585G>C

1 paper

NM_007044.4

p.L195S

c.584T>C

2 papers

NM_007044.4

p.E193K

c.577G>A

1 paper

NM_007044.4

p.F182insFs

c.545dupT

1 paper

NM_007044.4

p.A173V

c.518C>T

1 paper

NM_007044.4

p.L227insFs

c.680dupT

1 paper

NM_007044.4

p.R239insFs

c.715dupA

1 paper

NM_007044.4

p.P241S

c.721C>T

1 paper

NM_007044.4

p.P241L

c.722C>T