Varaico: Literature-Extracted Genetic Variants

Gene:XPO1
Variant:p.H56N

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.H56N
c.166C>A
Surrounding Variants
1 paper
NM_003400.4
p.P57S
c.169C>T
1 paper
NM_003400.4
p.D58E
c.174T>A
1 paper
NM_003400.4
p.W60C
c.180G>T
1 paper
NM_003400.4
p.W60C
c.180G>C
2 papers
NM_003400.4
p.L50Q
c.149T>A
1 paper
NM_003400.4
p.T61T
c.183A>T
1 paper
NM_003400.4
p.R62K
c.185G>A
1 paper
NM_003400.4
p.E48insFs
c.143_144insA
1 paper
NM_003400.4
p.V63L
c.187G>C
1 paper
NM_003400.4
p.V63I
c.187G>A
1 paper
NM_003400.4
p.E48D
c.144A>T
1 paper
NM_003400.4
p.E48D
c.144A>C
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