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.D403del1

c.1207_1208delATC

Surrounding Variants

1 paper

NM_007044.4

p.N412delFs

c.1235delT

1 paper

NM_007044.4

p.R392*

c.1174C>T

1 paper

NM_007044.4

p.S417S

c.1251A>G

1 paper

NM_007044.4

p.Y416_N423del0

c.1248_1268del21

1 paper

NM_007044.4

p.R426T

c.1277G>C

1 paper

NM_007044.4

p.Y378_I379del2

c.1132_1136del6

1 paper

NM_001204076.2

p.E298Q

c.892G>C

1 paper

NM_007044.4

p.D364E

c.1092T>G

1 paper

NM_007044.4

p.T359A

c.1075A>G

1 paper

NM_007044.4

p.A357insFs

c.1069_1070insAC

1 paper

NM_007044.4

p.D348V

c.1043A>T

2 papers

NM_007044.4

p.T343A

c.1027A>G