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.I313M

c.939C>G

Surrounding Variants

1 paper

NM_007044.4

p.R298*

c.892C>T

2 papers

NM_007044.4

p.K330R

c.989A>G

1 paper

NM_007044.4

p.L333P

c.998T>C

1 paper

NM_007044.4

p.Q336*

c.1006C>T

1 paper

NM_007044.4

p.V335_Q336del2

c.1003_1007del6

2 papers

NM_007044.4

p.T343A

c.1027A>G

1 paper

NM_007044.4

p.D348V

c.1043A>T

1 paper

NM_007044.4

p.A357insFs

c.1069_1070insAC

1 paper

NM_007044.4

p.T359A

c.1075A>G

1 paper

NM_007044.4

p.D364E

c.1092T>G

1 paper

NM_001204076.2

p.E298Q

c.892G>C

1 paper

NM_007044.4

p.Y378_I379del2

c.1132_1136del6