Varaico: Literature-Extracted Genetic Variants

Gene:ELL

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
1–12 of 128 variants
3 papers
NM_006532.4
p.D46V
c.137A>T
3 papers
NM_006532.4
p.V48F
c.142G>T
3 papers
NM_006532.4
p.S297N
c.890G>A
2 papers
NM_006532.4
p.A74V
c.221C>T
2 papers
NM_006532.4
p.R163W
c.487C>T
2 papers
NM_006532.4
p.D243N
c.727G>A
2 papers
NM_006532.4
p.G426S
c.1276G>A
2 papers
NM_006532.4
p.P500S
c.1498C>T
2 papers
NM_006532.4
p.S517F
c.1550C>T
2 papers
NM_006532.4
p.R571Q
c.1712G>A
2 papers
NM_006532.4
p.N587K
c.1761C>G
2 papers
NM_006532.4
p.N587K
c.1761C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."