Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.P369L

ELL

124 papers

Pfam Domains

ELLaa 6–292UCSCRNA polymerase II elongation factor ELL
Occludin_ELLaa 513–614UCSCOccludin homology domain

Gene Aliases

HGNC Name

elongation factor for RNA polymerase II

HGNC Previous Symbol

C19orf17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006532.4
p.P369L
c.1106C>T
Surrounding Variants
1 paper
NM_006532.4
p.T375M
c.1124C>T
1 paper
NM_006532.4
p.H383D
c.1147C>G
1 paper
NM_006532.4
p.K355R
c.1064A>G
1 paper
NM_006532.4
p.L384L
c.1150C>T
1 paper
NM_006532.4
p.P386S
c.1156C>T
1 paper
NM_006532.4
p.P386delFs
c.1157delG
1 paper
NM_006532.4
p.F344L
c.1032C>G
1 paper
NM_006532.4
p.F344L
c.1032C>A
1 paper
NM_006532.4
p.F344L
c.1030T>C
1 paper
NM_006532.4
p.L397L
c.1189C>T
1 paper
NM_006532.4
p.R340W
c.1018C>T
1 paper
NM_006532.4
p.A335Fs
c.1003delinsGAFs
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