Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.K453insFs

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.K453insFs
c.1358_1359insGT
Surrounding Variants
1 paper
NM_006532.4
p.R460T
c.1379G>C
1 paper
NM_006532.4
p.A461V
c.1382C>T
1 paper
NM_006532.4
p.A461A
c.1383G>A
1 paper
NM_006532.4
p.D464Y
c.1390G>T
1 paper
NM_006532.4
p.D464E
c.1392C>G
1 paper
NM_006532.4
p.D464E
c.1392C>A
1 paper
NM_006532.4
p.Q435K
c.1303C>A
1 paper
NM_006532.4
p.C473R
c.1417T>C
1 paper
NM_006532.4
p.D432V
c.1295A>T
1 paper
NM_006532.4
p.T431M
c.1292C>T
1 paper
NM_006532.4
p.A479A
c.1437C>A
1 paper
NM_006532.4
p.G426D
c.1277G>A
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