Varaico: Literature-Extracted Genetic Variants

Gene:ELP4
Variant:p.Y101*

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.Y101*
c.303T>A
Surrounding Variants
1 paper
NM_019040.5
p.Y101*
c.303T>G
1 paper
NM_019040.5
p.S95delFs
c.284delC
1 paper
NM_019040.5
p.S95fs
c.283_284fs
1 paper
NM_019040.5
p.Y91C
c.272A>G
3 papers
NM_019040.5
p.L113S
c.338T>C
1 paper
NM_019040.5
p.E87Splc
c.260-9057T>C
1 paper
NM_019040.5
p.E87Splc
c.260-9691C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."