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

1 paper

NM_005886.3

p.W90R

c.268T>A

Surrounding Variants

1 paper

NM_005886.3

p.W90R

c.268T>C

1 paper

NM_005886.3

p.A95insFs

c.284dupC

1 paper

NM_005886.3

p.P74L

c.221C>T

1 paper

NM_005886.3

p.T73A

c.217A>G

1 paper

NM_005886.3

p.G61G

c.183C>T

1 paper

NM_005886.3

p.N54S

c.161A>G

2 papers

NM_005886.3

p.V45I

c.133G>A

1 paper

NM_005886.3

p.V45fs

c.133_134fs

2 papers

NM_005886.3

p.G39R

c.115G>C

1 paper

NM_005886.3

p.R34W

c.100C>T

4 papers

NM_005886.3

p.G33W

c.97G>T

1 paper

NM_005886.3

p.S24A

c.70T>G