Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.R584P

GLE1

145 papers

RefSeq Summary

This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RN...

Pfam Domains

GLE1aa 396–649UCSCGLE1-like protein

Gene Aliases

HGNC Name

GLE1 RNA export mediator

HGNC Previous Symbols

GLE1L; LCCS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003722.2
p.R584P
c.1751G>C
Surrounding Variants
7 papers
NM_001003722.2
p.R584W
c.1750C>T
1 paper
NM_001003722.2
p.A579T
c.1735G>A
1 paper
NM_001003722.2
p.A578insFs
c.1732_1733insTA
1 paper
NM_001003722.2
p.A578S
c.1732G>T
1 paper
NM_001003722.2
p.Q591*
c.1771C>T
20 papers
NM_001003722.2
p.R569H
c.1706G>A
1 paper
NM_001003722.2
p.K556E
c.1666A>G
1 paper
NM_001003722.2
p.L551F
c.1651C>T
1 paper
NM_001003722.2
p.M550insFs
c.1650dupG
1 paper
NM_001003722.2
p.P595H
c.1784C>A
1 paper
NM_001003722.2
p.P595L
c.1784C>T
1 paper
NM_001003722.2
p.G597D
c.1790G>A
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