Varaico: Literature-Extracted Genetic Variants

Gene:ELP5

ELP5

14 papers

Pfam Domains

Elong_Iki1aa 1–204UCSCElongator subunit Iki1
Elong_Iki1aa 212–282UCSCElongator subunit Iki1

Gene Aliases

HGNC Name

elongator acetyltransferase complex subunit 5

HGNC Previous Symbol

C17orf81

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_203414.3
p.E46K
c.136G>A
1 paper
NM_203414.3
p.S58F
c.173C>T
1 paper
NM_203414.3
p.D59N
c.175G>A
1 paper
NM_203414.3
p.P100fs
c.298_299fs
1 paper
NM_203414.3
p.P100delFs
c.300delT
1 paper
NM_203414.3
p.L126P
c.377T>C
1 paper
NM_203414.3
p.G137Splc
c.409+5G>A
1 paper
NM_203414.3
p.S277N
c.830G>A
1 paper
NM_203414.3
p.F280ins4
c.839_840ins12
1 paper
NM_203414.3
p.F280ins1
c.839_840insGCA
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