Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL2
Variant:p.E20Q

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.E20Q
c.58G>C
Surrounding Variants
1 paper
NM_006666.3
p.E20*
c.58G>T
1 paper
NM_006666.3
p.A6S
c.16G>T
1 paper
NM_006666.3
p.V4_T5Splc
c.13-4C>T
1 paper
NM_006666.3
p.I28V
c.82A>G
1 paper
NM_006666.3
p.L33M
c.97C>A
1 paper
NM_006666.3
p.S43T
c.127T>A
1 paper
NM_006666.3
p.G48G
c.144T>C
1 paper
NM_006666.3
p.R53R
c.159G>A
1 paper
NM_006666.3
p.E61G
c.182A>G
1 paper
NM_006666.3
p.R71W
c.211C>T
1 paper
NM_006666.3
p.G77D
c.230G>A
1 paper
NM_006666.3
p.G82A
c.245G>C
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