Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.K11E

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.K11E
c.31A>G
Surrounding Variants
1 paper
NM_003707.3
p.R14H
c.41G>A
1 paper
NM_003707.3
p.A16T
c.46G>A
1 paper
NM_003707.3
p.Q34R
c.101A>G
1 paper
NM_003707.3
p.V40E
c.119T>A
1 paper
NM_003707.3
p.G41A
c.122G>C
1 paper
NM_003707.3
p.N44Y
c.130A>T
1 paper
NM_003707.3
p.K59*
c.175A>T
1 paper
NM_003707.3
p.A62T
c.184G>A
1 paper
NM_003707.3
p.K76M
c.227A>T
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