Varaico: Literature-Extracted Genetic Variants

Gene:VPS72
Variant:p.E114V

VPS72

67 papers

RefSeq Summary

The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. T...

Pfam Domains

YL1aa 7–216UCSCYL1 nuclear protein
YL1_Caa 291–319UCSCYL1 nuclear protein C-terminal domain

Gene Aliases

HGNC Name

vacuolar protein sorting 72 homolog

HGNC Previous Symbol

TCFL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005997.3
p.E114V
c.341A>T
Surrounding Variants
1 paper
NM_005997.3
p.L118P
c.353T>C
1 paper
NM_005997.3
p.Q109Q
c.327G>A
1 paper
NM_005997.3
p.P119R
c.356C>G
1 paper
NM_005997.3
p.S129insFs
c.385_386ins43
1 paper
NM_005997.3
p.R99*
c.295C>T
1 paper
NM_005997.3
p.E91A
c.272A>C
2 papers
NM_005997.3
p.Y89C
c.266A>G
1 paper
NM_005997.3
p.Y89N
c.265T>A
1 paper
NM_005997.3
p.R80W
c.238A>T
1 paper
NM_005997.3
p.G73A
c.218G>C
1 paper
NM_005997.3
p.P69Q
c.206C>A
1 paper
NM_005997.3
p.E68E
c.204A>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."