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.G145fs

c.433_434fs

Surrounding Variants

1 paper

NM_005886.3

p.G145_S147delFs

c.433_440del8

1 paper

NM_005886.3

p.A149delFs

c.446delC

2 papers

NM_005886.3

p.V150fs

c.448_449fs

1 paper

NM_005886.3

p.M181V

c.541A>G

1 paper

NM_005886.3

p.R144_G145Splc

c.432+6G>A

2 papers

NM_005886.3

p.R144_G145Splc

c.432+1G>A

1 paper

NM_005886.3

p.T189M

c.566C>T

1 paper

NM_005886.3

p.K130_L131Splc

c.391-1G>T

1 paper

NM_005886.3

p.S206F

c.617C>T

1 paper

NM_005886.3

p.K130_L131Splc

c.391-29C>G

1 paper

NM_005886.3

p.N128K

c.384C>A

1 paper

NM_005886.3

p.N128K

c.384C>G