Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.M191I

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.M191I
c.573G>A
Surrounding Variants
1 paper
NM_001003722.2
p.M191I
c.573G>C
1 paper
NM_001003722.2
p.M191I
c.573G>T
1 paper
NM_001003722.2
p.E192G
c.575A>G
1 paper
NM_001003722.2
p.S194N
c.581G>A
1 paper
NM_001003722.2
p.D186A
c.557A>C
1 paper
NM_001003722.2
p.W175fs
c.523_524fs
1 paper
NM_001003722.2
p.W175_K176delFs
c.523_527del5
1 paper
NM_001003722.2
p.S162L
c.485C>T
1 paper
NM_001003722.2
p.Q154*
c.460C>T
1 paper
NM_001003722.2
p.E152fs
c.454_455fs
1 paper
NM_001003722.2
p.E152insFs
c.454_455ins17
1 paper
NM_001003722.2
p.W150R
c.448T>A
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