Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.R144*

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.R144*
c.430C>T
Surrounding Variants
1 paper
NM_006532.4
p.R144G
c.430C>G
1 paper
NM_006532.4
p.V148A
c.443T>C
1 paper
NM_006532.4
p.G157Splc
c.469+2T>C
1 paper
NM_006532.4
p.D125N
c.373G>A
1 paper
NM_006532.4
p.K117R
c.350A>G
1 paper
NM_006532.4
p.S102Splc
c.306-1G>A
1 paper
NM_006532.4
p.Q98K
c.292C>A
1 paper
NM_006532.4
p.S92C
c.274A>T
1 paper
NM_006532.4
p.T76M
c.227C>T
1 paper
NM_006532.4
p.A74A
c.222G>A
2 papers
NM_006532.4
p.A74V
c.221C>T
1 paper
NM_006532.4
p.E73K
c.217G>A
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