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.R358C

c.1072C>T

Surrounding Variants

2 papers

NM_005886.3

p.R349Splc

c.1047-1G>A

1 paper

NM_005886.3

p.D368D

c.1104C>T

1 paper

NM_005886.3

p.R370C

c.1108C>T

1 paper

NM_005886.3

p.R373H

c.1118G>A

1 paper

NM_005886.3

p.A374S

c.1120G>T

1 paper

NM_005886.3

p.N383N

c.1149C>T

1 paper

NM_005886.3

p.S391delFs

c.1171delA

1 paper

NM_005886.3

p.S391fs

c.1171_1172fs

1 paper

NM_005886.3

p.I392M

c.1176C>G

1 paper

NM_005886.3

p.A331D

c.992C>A

1 paper

NM_005886.3

p.A331T

c.991G>A

1 paper

NM_005886.3

p.L326R

c.977T>G