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

1–12 of 74 variants

6 papers

NM_005886.3

p.S535L

c.1604C>T

4 papers

NM_005886.3

p.G33W

c.97G>T

3 papers

NM_005886.3

p.L540R

c.1619T>G

3 papers

NM_005886.3

p.G578D

c.1733G>A

2 papers

NM_005886.3

p.M1V

c.1A>G

2 papers

NM_005886.3

p.G39R

c.115G>C

2 papers

NM_005886.3

p.V45I

c.133G>A

2 papers

NM_005886.3

p.R144_G145Splc

c.432+1G>A

2 papers

NM_005886.3

p.V150fs

c.448_449fs

2 papers

NM_005886.3

p.R349Splc

c.1047-1G>A

2 papers

NM_005886.3

p.P452S

c.1354C>T

2 papers

NM_005886.3

p.P472_A473Splc

c.1416+1G>A