Varaico: Literature-Extracted Genetic Variants

KATNB1

57 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

WD40aa 11–49UCSCWD domain, G-beta repeat

WD40aa 53–91UCSCWD domain, G-beta repeat

WD40aa 95–133UCSCWD domain, G-beta repeat

WD40aa 137–175UCSCWD domain, G-beta repeat

WD40aa 179–217UCSCWD domain, G-beta repeat

WD40aa 221–257UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

katanin regulatory subunit B1

HGNC Previous Names

katanin p80 (WD40-containing) subunit B 1; katanin p80 (WD repeat containing) subunit B 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005886.3

p.P472_A473Splc

c.1416+1G>A

Surrounding Variants

1 paper

NM_005886.3

p.S468S

c.1404C>T

1 paper

NM_005886.3

p.A467V

c.1400C>T

1 paper

NM_005886.3

p.A453V

c.1358C>T

1 paper

NM_005886.3

p.A453S

c.1357G>T

2 papers

NM_005886.3

p.P452S

c.1354C>T

1 paper

NM_005886.3

p.V441L

c.1321G>C

1 paper

NM_005886.3

p.V441L

c.1321G>T

1 paper

NM_005886.3

p.P440R

c.1319C>G

1 paper

NM_005886.3

p.P477H

c.1430C>A

1 paper

NM_005886.3

p.L433_P440del8

c.1297_1319del24

1 paper

NM_005886.3

p.A480T

c.1438G>A

1 paper

NM_005886.3

p.V483A

c.1448T>C