Varaico: Literature-Extracted Genetic Variants

Gene:RAD51B
Variant:p.N130H

RAD51B

353 papers

RefSeq Summary

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein ...

Pfam Domains

HHH_XRCC3_RpoAaa 6–60UCSCXRCC3/RpoA-like, helix-hairpin-helix domain
HHH_XRCC3_RpoAaa 6–60UCSCXRCC3/RpoA-like, helix-hairpin-helix domain
Rad51aa 80–345UCSCRad51

Gene Aliases

HGNC Name

RAD51 paralog B

HGNC Previous Symbol

RAD51L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133510.4
p.N130H
c.388A>C
Surrounding Variants
1 paper
NM_133510.4
p.T129_N130insT
c.385_389ins3
1 paper
NM_133510.4
p.M131L
c.391A>C
2 papers
NM_133510.4
p.G132E
c.395G>A
1 paper
NM_133510.4
p.G133_I141delFs
c.397_422del26
1 paper
NM_133510.4
p.L127*
c.380T>A
1 paper
NM_133510.4
p.G133*
c.397G>T
1 paper
NM_133510.4
p.T126P
c.376A>C
1 paper
NM_133510.4
p.A125G
c.374C>G
1 paper
NM_133510.4
p.A125T
c.373G>A
1 paper
NM_133510.4
p.A125_T126insATG
c.373_377ins9
1 paper
NM_133510.4
p.E135G
c.404A>G
1 paper
NM_133510.4
p.A137_Y140delFs
c.409_418del10
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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."