Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.D46V

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
3 papers
NM_006532.4
p.D46V
c.137A>T
Surrounding Variants
1 paper
NM_006532.4
p.S47F
c.140C>T
3 papers
NM_006532.4
p.V48F
c.142G>T
1 paper
NM_006532.4
p.Q60H
c.180A>T
1 paper
NM_006532.4
p.Q60H
c.180A>C
1 paper
NM_006532.4
p.Q45_D46Splc
c.136-3137G>A
1 paper
NM_006532.4
p.G61_H62Splc
c.184-3C>T
1 paper
NM_006532.4
p.I63M
c.189C>G
1 paper
NM_006532.4
p.P71P
c.213C>T
1 paper
NM_006532.4
p.E73K
c.217G>A
2 papers
NM_006532.4
p.A74V
c.221C>T
1 paper
NM_006532.4
p.A74A
c.222G>A
1 paper
NM_006532.4
p.T76M
c.227C>T
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