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.L469V

c.1405T>G

Surrounding Variants

1 paper

NM_001316.4

p.P467R

c.1400C>G

1 paper

NM_001316.4

p.S471A

c.1411T>G

2 papers

NM_001316.4

p.A472G

c.1415C>G

1 paper

NM_001316.4

p.E459*

c.1375G>T

1 paper

NM_001316.4

p.E453_L454ins4

c.1357_1361ins12

1 paper

NM_001316.4

p.E476delFs

c.1428delA

1 paper

NM_001256135.2

p.F421L

c.1261T>C

1 paper

NM_001256135.2

p.F421L

c.1263T>A

1 paper

NM_001256135.2

p.F421L

c.1263T>G

2 papers

NM_001256135.2

p.P422S

c.1264C>T

NM_001316.4

p.P478S

c.1432C>T

1 paper

NM_001316.4

p.S421P

c.1261T>C

1 paper

NM_001316.4

p.Q414_A417delFs

c.1240_1249del10