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

3 papers

NM_005886.3

p.L540R

c.1619T>G

Surrounding Variants

6 papers

NM_005886.3

p.S535L

c.1604C>T

1 paper

NM_005886.3

p.D533N

c.1597G>A

1 paper

NM_005886.3

p.A548V

c.1643C>T

1 paper

NM_005886.3

p.V559I

c.1675G>A

1 paper

NM_005886.3

p.L566I

c.1696C>A

1 paper

NM_005886.3

p.L567L

c.1701G>A

1 paper

NM_005886.3

p.R505H

c.1514G>A

3 papers

NM_005886.3

p.G578D

c.1733G>A

1 paper

NM_005886.3

p.D484N

c.1450G>A

1 paper

NM_005886.3

p.V483A

c.1448T>C

1 paper

NM_005886.3

p.A480T

c.1438G>A

1 paper

NM_005886.3

p.P477H

c.1430C>A