Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.N183D

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.N183D
c.547A>G
Surrounding Variants
1 paper
NM_006532.4
p.L184*
c.551T>A
1 paper
NM_006532.4
p.R176Q
c.527G>A
1 paper
NM_006532.4
p.R176W
c.526C>T
1 paper
NM_006532.4
p.P174H
c.521C>A
1 paper
NM_006532.4
p.A172E
c.515C>A
1 paper
NM_006532.4
p.A172T
c.514G>A
1 paper
NM_006532.4
p.S194N
c.581G>A
1 paper
NM_006532.4
p.D171insFs
c.512dupA
1 paper
NM_006532.4
p.V196M
c.586G>A
2 papers
NM_006532.4
p.R163W
c.487C>T
1 paper
NM_006532.4
p.Q204H
c.612G>T
1 paper
NM_006532.4
p.Q204H
c.612G>C
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