Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.E505V

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.E505V
c.1514A>T
Surrounding Variants
2 papers
NM_006532.4
p.P500S
c.1498C>T
1 paper
NM_006532.4
p.P500A
c.1498C>G
1 paper
NM_006532.4
p.A514T
c.1540G>A
2 papers
NM_006532.4
p.S517F
c.1550C>T
1 paper
NM_006532.4
p.S517S
c.1551C>T
1 paper
NM_006532.4
p.S518F
c.1553C>T
1 paper
NM_006532.4
p.S519Fs
c.1555delinsAAFs
1 paper
NM_006532.4
p.E520A
c.1559A>C
1 paper
NM_006532.4
p.H540H
c.1620C>T
1 paper
NM_006532.4
p.T547M
c.1640C>T
1 paper
NM_006532.4
p.R548W
c.1642C>T
1 paper
NM_006532.4
p.T551A
c.1651A>G
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