Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.L365Q

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
2 papers
NM_003707.3
p.L365Q
c.1094T>A
Surrounding Variants
1 paper
NM_003707.3
p.L365V
c.1093C>G
1 paper
NM_003707.3
p.R362W
c.1084C>T
1 paper
NM_003707.3
p.Q369H
c.1107G>T
1 paper
NM_003707.3
p.Q369H
c.1107G>C
1 paper
NM_003707.3
p.R357*
c.1069C>T
1 paper
NM_003707.3
p.L355P
c.1064T>C
1 paper
NM_003707.3
p.G349S
c.1045G>A
1 paper
NM_003707.3
p.P347fs
c.1039_1040fs
1 paper
NM_003707.3
p.T341T
c.1023T>C
1 paper
NM_003707.3
p.R378C
c.1132C>T
1 paper
NM_003707.3
p.R378L
c.1133G>T
1 paper
NM_003707.3
p.S387N
c.1160G>A
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