Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL2
Variant:p.A289V

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
Selected Variant
1 paper
NM_006666.3
p.A289V
c.866C>T
Surrounding Variants
1 paper
NM_006666.3
p.R284R
c.852C>T
1 paper
NM_006666.3
p.G294V
c.881G>T
2 papers
NM_006666.3
p.I276_N277delFs
c.828_831del4
1 paper
NM_006666.3
p.G266R
c.796G>A
3 papers
NM_006666.3
p.D299N
c.895G>A
1 paper
NM_006666.3
p.E300Q
c.898G>C
1 paper
NM_006666.3
p.E300G
c.899A>G
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.R330H
c.989G>A
1 paper
NM_006666.3
p.T333P
c.997A>C
1 paper
NM_006666.3
p.A259A
c.777G>A
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