Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.P174A

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.P174A
c.520C>G
Surrounding Variants
1 paper
NM_003707.3
p.D173A
c.518A>C
1 paper
NM_003707.3
p.E178*
c.532G>T
1 paper
NM_003707.3
p.E178D
c.534A>T
1 paper
NM_003707.3
p.L180S
c.539T>C
1 paper
NM_003707.3
p.A199V
c.596C>T
3 papers
NM_003707.3
p.R205K
c.614G>A
2 papers
NM_003707.3
p.E212*
c.634G>T
1 paper
NM_003707.3
p.L223L
c.669G>A
1 paper
NM_003707.3
p.E233*
c.697G>T
1 paper
NM_003707.3
p.T239A
c.715A>G
1 paper
NM_003707.3
p.G253*
c.757G>T
1 paper
NM_003707.3
p.Q254fs
c.760_761fs
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