Varaico: Literature-Extracted Genetic Variants

Gene:ELL2
Variant:p.H212Q

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
1 paper
NM_012081.6
p.H212Q
c.636C>A
Surrounding Variants
1 paper
NM_012081.6
p.R209S
c.627G>T
1 paper
NM_012081.6
p.R209S
c.627G>C
2 papers
NM_012081.6
p.R209M
c.626G>T
2 papers
NM_012081.6
p.S197G
c.589A>G
1 paper
NM_012081.6
p.D231N
c.691G>A
1 paper
NM_012081.6
p.N234D
c.700A>G
1 paper
NM_012081.6
p.A189T
c.565G>A
1 paper
NM_012081.6
p.P185S
c.553C>T
1 paper
NM_012081.6
p.A243S
c.727G>T
1 paper
NM_012081.6
p.I244V
c.730A>G
1 paper
NM_012081.6
p.E179E
c.537G>A
1 paper
NM_012081.6
p.E179K
c.535G>A
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