Varaico: Literature-Extracted Genetic Variants

XPO1

623 papers

RefSeq Summary

This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U s...

Pfam Domains

IBN_Naa 46–112UCSCImportin-beta N-terminal domain

Xpo1aa 123–268UCSCExportin 1-like protein

CRM1_repeataa 345–381UCSCChromosome region maintenance or exportin repeat

CRM1_repeat_2aa 405–472UCSCCRM1 / Exportin repeat 2

CRM1_repeat_3aa 485–535UCSCCRM1 / Exportin repeat 3

CRM1_Caa 664–982UCSCCRM1 C terminal

Gene Aliases

HGNC Name

exportin 1

HGNC Alias Symbols

CRM1; CRM-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003400.4

p.V548del1

c.1642_1643delTAC

Surrounding Variants

1 paper

NM_003400.4

p.G549C

c.1645G>T

1 paper

NM_003400.4

p.G549S

c.1645G>A

1 paper

NM_003400.4

p.V548A

c.1643T>C

1 paper

NM_003400.4

p.I547T

c.1640T>C

1 paper

NM_003400.4

p.P552T

c.1654C>A

1 paper

NM_003400.4

p.P552L

c.1655C>T

1 paper

NM_003400.4

p.P552Q

c.1655C>A

1 paper

NM_003400.4

p.R553C

c.1657C>T

1 paper

NM_003400.4

p.R553P

c.1658G>C

2 papers

NM_003400.4

p.I544V

c.1630A>G

1 paper

NM_003400.4

p.L555fs

c.1663_1664fs

1 paper

NM_003400.4

p.L562L

c.1686G>A