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

1–12 of 80 variants

2 papers

NM_007044.4

p.E193K

c.577G>A

2 papers

NM_007044.4

p.R207*

c.619C>T

2 papers

NM_007044.4

p.K330R

c.989A>G

2 papers

NM_007044.4

p.T343A

c.1027A>G

1 paper

NM_007044.4

p.M1T

c.2T>C

1 paper

NM_007044.4

p.M1insFs

c.2dupT

1 paper

NM_007044.4

p.M1delFs

c.2delA

1 paper

NM_007044.4

p.M1insFs

c.3dupG

1 paper

NM_007044.4

p.V27A

c.80T>C

1 paper

NM_007044.4

p.K44*

c.130A>T

1 paper

NM_007044.4

p.L48F

c.142C>T

1 paper

NM_007044.4

p.L48delFs

c.144delG