Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.V617M

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
11 papers
NM_001003722.2
p.V617M
c.1849G>A
Surrounding Variants
1 paper
NM_001003722.2
p.D616insFs
c.1847dupA
1 paper
NM_001003722.2
p.L614S
c.1841T>C
1 paper
NM_001003722.2
p.T620A
c.1858A>G
1 paper
NM_001003722.2
p.R603P
c.1808G>C
4 papers
NM_001003722.2
p.R603L
c.1808G>T
1 paper
NM_001003722.2
p.H600Y
c.1798C>T
1 paper
NM_001003722.2
p.G597D
c.1790G>A
1 paper
NM_001003722.2
p.P595H
c.1784C>A
1 paper
NM_001003722.2
p.P595L
c.1784C>T
5 papers
NM_001003722.2
p.E627_V628Splc
c.1882-2A>G
1 paper
NM_001003722.2
p.Q591*
c.1771C>T
1 paper
NM_001003722.2
p.R584P
c.1751G>C
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