Varaico: Literature-Extracted Genetic Variants

CSE1L

151 papers

RefSeq Summary

Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocatio...

Pfam Domains

IBN_Naa 29–102UCSCImportin-beta N-terminal domain

Cse1aa 156–526UCSCCse1

CAS_CSE1aa 527–962UCSCCAS/CSE protein, C-terminus

Gene Aliases

HGNC Name

chromosome segregation 1 like

HGNC Alias Symbols

CAS; XPO2; CSE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001316.4

p.D358A

c.1073A>C

Surrounding Variants

1 paper

NM_001316.4

p.D364V

c.1091A>T

1 paper

NM_001316.4

p.R371K

c.1112G>A

1 paper

NM_001316.4

p.R391*

c.1171C>T

1 paper

NM_001316.4

p.G392R

c.1174G>A

1 paper

NM_001316.4

p.E398*

c.1192G>T

1 paper

NM_001316.4

p.E398fs

c.1192_1193fs

1 paper

NM_001256135.2

p.I348V

c.1042A>G

1 paper

NM_001316.4

p.Q414_A417delFs

c.1240_1249del10

1 paper

NM_001316.4

p.S421P

c.1261T>C

1 paper

NM_001316.4

p.I348V

c.1042A>G

1 paper

NM_001316.4

p.D336E

c.1008C>A

1 paper

NM_001316.4

p.D336E

c.1008C>G