Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL2
Variant:p.T199M

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.T199M
c.596C>T
Surrounding Variants
1 paper
NM_006666.3
p.R207C
c.619C>T
1 paper
NM_006666.3
p.Y215Y
c.645C>T
1 paper
NM_006666.3
p.D216N
c.646G>A
1 paper
NM_006666.3
p.G190R
c.568G>A
1 paper
NM_006666.3
p.G190R
c.568G>C
1 paper
NM_006666.3
p.M178fs
c.532_533fs
2 papers
NM_006666.3
p.G175C
c.523G>T
1 paper
NM_006666.3
p.K160I
c.479A>T
1 paper
NM_006666.3
p.G159D
c.476G>A
1 paper
NM_006666.3
p.G159A
c.476G>C
1 paper
NM_006666.3
p.G159S
c.475G>A
1 paper
NM_006666.3
p.G159R
c.475G>C
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