Varaico: Literature-Extracted Genetic Variants

Gene:ELL2
Variant:p.I100F

ELL2

63 papers

Pfam Domains

ELLaa 11–291UCSCRNA polymerase II elongation factor ELL
Occludin_ELLaa 532–633UCSCOccludin homology domain

Gene Aliases

HGNC Name

elongation factor for RNA polymerase II 2

HGNC Alias Symbol

MRCCAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_012081.6
p.I100F
c.298A>T
Surrounding Variants
1 paper
NM_012081.6
p.K90R
c.269A>G
1 paper
NM_012081.6
p.H79Y
c.235C>T
1 paper
NM_012081.6
p.P70P
c.210C>T
1 paper
NM_012081.6
p.P158Q
c.473C>A
1 paper
NM_012081.6
p.G65_L66Splc
c.196-8273A>G
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