Varaico: Literature-Extracted Genetic Variants

Gene:ELL2

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
1–12 of 54 variants
6 papers
NM_012081.6
p.A298T
c.892G>A
3 papers
NM_012081.6
p.I100F
c.298A>T
2 papers
NM_012081.6
p.I58V
c.172A>G
2 papers
NM_012081.6
p.S197G
c.589A>G
2 papers
NM_012081.6
p.R209M
c.626G>T
2 papers
NM_012081.6
p.R302H
c.905G>A
1 paper
NM_012081.6
p.T6A
c.16A>G
1 paper
NM_012081.6
p.R14H
c.41G>A
1 paper
NM_012081.6
p.S18L
c.53C>T
1 paper
NM_012081.6
p.K33K
c.99G>A
1 paper
NM_012081.6
p.Y45*
c.135C>G
1 paper
NM_012081.6
p.Y45*
c.135C>A
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