Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.S70*

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
4 papers
NM_001003722.2
p.S70*
c.209C>A
Surrounding Variants
1 paper
NM_001003722.2
p.L79V
c.235C>G
1 paper
NM_001003722.2
p.Q61R
c.182A>G
1 paper
NM_001003722.2
p.H55R
c.164A>G
1 paper
NM_001003722.2
p.W51C
c.153G>C
1 paper
NM_001003722.2
p.D90A
c.269A>C
2 papers
NM_001003722.2
p.C39Y
c.116G>A
2 papers
NM_001003722.2
p.G105G
c.315A>T
1 paper
NM_001003722.2
p.V35F
c.103G>T
1 paper
NM_001003722.2
p.E33_D34Splc
c.99+4A>G
1 paper
NM_001003722.2
p.R31R
c.93G>A
1 paper
NM_001003722.2
p.R31R
c.93G>C
1 paper
NM_001003722.2
p.L29L
c.87G>T
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