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

2 papers

NM_003400.4

p.R749*

c.2245C>T

Surrounding Variants

9 papers

NM_003400.4

p.R749Q

c.2246G>A

1 paper

NM_003400.4

p.R746T

c.2237G>C

1 paper

NM_003400.4

p.T740_R746del0

c.2219_2236del18

1 paper

NM_003400.4

p.I745F

c.2233A>T

1 paper

NM_003400.4

p.L756S

c.2267T>C

1 paper

NM_003400.4

p.K741R

c.2222A>G

1 paper

NM_003400.4

p.V763L

c.2287G>T

1 paper

NM_003400.4

p.V763L

c.2287G>C

2 papers

NM_003400.4

p.R765*

c.2293C>T

1 paper

NM_003400.4

p.M771del1

c.2311_2312delCAT

1 paper

NM_003400.4

p.M771_V772Splc

c.2313+2T>G

1 paper

NM_003400.4

p.G736R

c.2206G>C