Varaico: Literature-Extracted Genetic Variants

KNL1

247 papers

RefSeq Summary

The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functi...

Pfam Domains

MELTaa 164–187UCSCMELT motif

MELTaa 293–317UCSCMELT motif

MELTaa 452–470UCSCMELT motif

Gene Aliases

HGNC Name

kinetochore scaffold 1

HGNC Previous Symbols

MCPH4; CASC5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 334 variants

10 papers

NM_144508.5

p.R43T

c.128G>C

5 papers

NM_144508.5

p.T936A

c.2806A>G

5 papers

NM_170589.5

p.M2041I

c.6123G>A

5 papers

NM_170589.5

p.M2041I

c.6123G>C

5 papers

NM_170589.5

p.M2041I

c.6123G>T

4 papers

NM_144508.5

p.M572T

c.1715T>C

4 papers

NM_144508.5

p.K1259E

c.3775A>G

3 papers

NM_144508.5

p.T87A

c.259A>G

3 papers

NM_144508.5

p.A460S

c.1378G>T

3 papers

NM_144508.5

p.R910G

c.2728A>G

3 papers

NM_170589.5

p.K2224_M2225Splc

c.6673-19T>A

2 papers

NM_144508.5

p.V4V

c.12G>C