Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.T163A

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.T163A
c.487A>G
Surrounding Variants
1 paper
NM_003707.3
p.T163P
c.487A>C
2 papers
NM_003707.3
p.A164T
c.490G>A
1 paper
NM_003707.3
p.G166*
c.496G>T
1 paper
NM_003707.3
p.I159R
c.476T>G
1 paper
NM_003707.3
p.I159T
c.476T>C
2 papers
NM_003707.3
p.K171_L172Splc
c.513+1G>A
1 paper
NM_003707.3
p.G148R
c.442G>C
1 paper
NM_003707.3
p.G148R
c.442G>A
1 paper
NM_003707.3
p.K128*
c.382A>T
1 paper
NM_003707.3
p.D173A
c.518A>C
1 paper
NM_003707.3
p.P174A
c.520C>G
1 paper
NM_003707.3
p.E178*
c.532G>T
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