Varaico: Literature-Extracted Genetic Variants

Gene:ELP4
Variant:p.M399T

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.M399T
c.1196T>C
Surrounding Variants
1 paper
NM_019040.5
p.R395C
c.1183C>T
1 paper
NM_019040.5
p.S404delFs
c.1212delC
2 papers
NM_019040.5
p.S394T
c.1181G>C
1 paper
NM_019040.5
p.S394Fs
c.1182delinsTCFs
1 paper
NM_019040.5
p.L408Fs
c.1222delinsCAFs
1 paper
NM_019040.5
p.M414T
c.1241T>C
1 paper
NM_019040.5
p.A416D
c.1247C>A
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