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

3 papers

NM_003400.4

p.E513K

c.1537G>A

Surrounding Variants

1 paper

NM_003400.4

p.E513A

c.1538A>C

1 paper

NM_003400.4

p.E511K

c.1531G>A

1 paper

NM_003400.4

p.R515*

c.1543C>T

1 paper

NM_003400.4

p.E510K

c.1528G>A

1 paper

NM_003400.4

p.A507_M508insA

c.1519_1523ins3

1 paper

NM_003400.4

p.V520A

c.1559T>C

1 paper

NM_003400.4

p.L494V

c.1480T>G

1 paper

NM_003400.4

p.W491*

c.1472G>A

1 paper

NM_003400.4

p.E488D

c.1464G>T

1 paper

NM_003400.4

p.E488D

c.1464G>C

1 paper

NM_003400.4

p.V484_T487del4

c.1450_1460del12

1 paper

NM_003400.4

p.G486C

c.1456G>T