Varaico: Literature-Extracted Genetic Variants

Gene:ELP4
Variant:p.S9insFs

ELP4

53 papers

RefSeq Summary

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gen...

Pfam Domains

PAXNEBaa 45–403UCSCPAXNEB protein

Gene Aliases

HGNC Name

elongator acetyltransferase complex subunit 4

HGNC Previous Symbol

C11orf19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019040.5
p.S9insFs
c.26dupG
Surrounding Variants
1 paper
NM_019040.5
p.A5T
c.13G>A
1 paper
NM_019040.5
p.M1insFs
c.3dupG
1 paper
NM_019040.5
p.M1insFs
c.2dupT
1 paper
NM_019040.5
p.R32R
c.96G>A
1 paper
NM_019040.5
p.G33C
c.97G>T
1 paper
NM_019040.5
p.S37N
c.110G>A
1 paper
NM_019040.5
p.L46P
c.137T>C
1 paper
NM_019040.5
p.G51A
c.152G>C
1 paper
NM_019040.5
p.L74L
c.220T>C
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