Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.E431K

RUVBL1

97 papers

RefSeq Summary

This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded pro...

Pfam Domains

TIP49aa 14–369UCSCTIP49 P-loop domain
TIP49_Caa 374–439UCSCTIP49 AAA-lid domain

Gene Aliases

HGNC Name

RuvB like AAA ATPase 1

HGNC Alias Symbols

TIP49; NMP238; RVB1; TIP49a; Pontin52; ECP54; TIH1; Rvb1; INO80H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003707.3
p.E431K
c.1291G>A
Surrounding Variants
1 paper
NM_003707.3
p.K427*
c.1279A>T
1 paper
NM_003707.3
p.A440V
c.1319C>T
1 paper
NM_003707.3
p.G421E
c.1262G>A
1 paper
NM_003707.3
p.P412Q
c.1235C>A
1 paper
NM_003707.3
p.E389*
c.1165G>T
1 paper
NM_003707.3
p.S387N
c.1160G>A
1 paper
NM_003707.3
p.R378L
c.1133G>T
1 paper
NM_003707.3
p.R378C
c.1132C>T
1 paper
NM_003707.3
p.Q369H
c.1107G>T
1 paper
NM_003707.3
p.Q369H
c.1107G>C
2 papers
NM_003707.3
p.L365Q
c.1094T>A
1 paper
NM_003707.3
p.L365V
c.1093C>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."