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

1 paper

NM_007044.4

p.K77R

c.230A>G

Surrounding Variants

1 paper

NM_007044.4

p.K77E

c.229A>G

1 paper

NM_007044.4

p.D68A

c.203A>C

1 paper

NM_007044.4

p.N60Y

c.178A>T

1 paper

NM_007044.4

p.E58A

c.173A>C

1 paper

NM_007044.4

p.V55A

c.164T>C

1 paper

NM_007044.4

p.V55D

c.164T>A

1 paper

NM_007044.4

p.V102L

c.304G>T

1 paper

NM_007044.4

p.V102L

c.304G>C

1 paper

NM_007044.4

p.P103H

c.308C>A

1 paper

NM_007044.4

p.L48delFs

c.144delG

1 paper

NM_007044.4

p.L48_Q49del1

c.143_145delGGA

1 paper

NM_007044.4

p.L48F

c.142C>T