Varaico: Literature-Extracted Genetic Variants

Gene:ELL2
Variant:p.P364P

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.P364P
c.1092G>A
Surrounding Variants
1 paper
NM_012081.6
p.K358fs
c.1072_1073fs
1 paper
NM_012081.6
p.P373P
c.1119T>C
1 paper
NM_012081.6
p.Q390H
c.1170G>T
1 paper
NM_012081.6
p.Q390H
c.1170G>C
1 paper
NM_012081.6
p.D328E
c.984T>G
1 paper
NM_012081.6
p.D328E
c.984T>A
1 paper
NM_012081.6
p.S456_M457delFs
c.1366_1370del5
1 paper
NM_012081.6
p.K468insFs
c.1404dupA
1 paper
NM_012081.6
p.G508R
c.1522G>C
1 paper
NM_012081.6
p.G508R
c.1522G>A
2 papers
NM_012081.6
p.R302H
c.905G>A
6 papers
NM_012081.6
p.A298T
c.892G>A
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