Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL2

RUVBL2

87 papers

RefSeq Summary

This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional ...

Pfam Domains

TIP49aa 21–365UCSCTIP49 P-loop domain
TIP49_Caa 370–435UCSCTIP49 AAA-lid domain

Gene Aliases

HGNC Name

RuvB like AAA ATPase 2

HGNC Alias Symbols

RVB2; TIP48; TIP49b; Reptin52; ECP51; TIH2; INO80J; Rvb2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
3 papers
NM_006666.3
p.D299N
c.895G>A
2 papers
NM_006666.3
p.V4D
c.11T>A
2 papers
NM_006666.3
p.G175C
c.523G>T
2 papers
NM_006666.3
p.I276_N277delFs
c.828_831del4
2 papers
NM_006666.3
p.M303V
c.907A>G
2 papers
NM_006666.3
p.R314W
c.940C>T
1 paper
NM_006666.3
p.A2A
c.6A>G
1 paper
NM_006666.3
p.V4_T5Splc
c.13-4C>T
1 paper
NM_006666.3
p.A6S
c.16G>T
1 paper
NM_006666.3
p.E20Q
c.58G>C
1 paper
NM_006666.3
p.E20*
c.58G>T
1 paper
NM_006666.3
p.I28V
c.82A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."