Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.N587K

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
2 papers
NM_006532.4
p.N587K
c.1761C>A
Surrounding Variants
2 papers
NM_006532.4
p.N587K
c.1761C>G
1 paper
NM_006532.4
p.S589insFs
c.1765_1766insC
1 paper
NM_006532.4
p.S600N
c.1799G>A
1 paper
NM_006532.4
p.K606T
c.1817A>C
1 paper
NM_006532.4
p.I609L
c.1825A>C
1 paper
NM_006532.4
p.R615Q
c.1844G>A
2 papers
NM_006532.4
p.W620C
c.1860G>T
2 papers
NM_006532.4
p.W620C
c.1860G>C
1 paper
NM_006532.4
p.K583R
c.1748A>G
2 papers
NM_006532.4
p.R571Q
c.1712G>A
1 paper
NM_006532.4
p.S561A
c.1681T>G
1 paper
NM_006532.4
p.T551A
c.1651A>G
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