Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.R276*

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
3 papers
NM_003707.3
p.R276*
c.826C>T
Surrounding Variants
1 paper
NM_003707.3
p.K274N
c.822A>T
1 paper
NM_003707.3
p.K274N
c.822A>C
2 papers
NM_003707.3
p.R276_G277delFs
c.828_831del4
2 papers
NM_003707.3
p.V283V
c.849G>A
1 paper
NM_003707.3
p.D288N
c.862G>A
2 papers
NM_003707.3
p.A292T
c.874G>A
9 papers
NM_003707.3
p.D302N
c.904G>A
2 papers
NM_003707.3
p.E303Q
c.907G>C
1 paper
NM_003707.3
p.R317H
c.950G>A
1 paper
NM_003707.3
p.F329L
c.985T>C
1 paper
NM_003707.3
p.F329L
c.987T>G
1 paper
NM_003707.3
p.F329L
c.987T>A
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