Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.L245H

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.L245H
c.734T>A
Surrounding Variants
2 papers
NM_006532.4
p.D243N
c.727G>A
1 paper
NM_006532.4
p.A237T
c.709G>A
1 paper
NM_006532.4
p.Q236L
c.707A>T
1 paper
NM_006532.4
p.Y220C
c.659A>G
1 paper
NM_006532.4
p.D209N
c.625G>A
1 paper
NM_006532.4
p.F207S
c.620T>C
1 paper
NM_006532.4
p.Q204H
c.612G>T
1 paper
NM_006532.4
p.Q204H
c.612G>C
1 paper
NM_006532.4
p.V196M
c.586G>A
1 paper
NM_006532.4
p.S194N
c.581G>A
1 paper
NM_006532.4
p.L184*
c.551T>A
1 paper
NM_006532.4
p.N183D
c.547A>G
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