Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.R172S

RAD21

594 papers

RefSeq Summary

The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion d...

Pfam Domains

Rad21_Rec8_Naa 1–106UCSCN terminus of Rad21 / Rec8 like protein
Rad21_Rec8aa 574–628UCSCConserved region of Rad21 / Rec8 like protein

Gene Aliases

HGNC Name

RAD21 cohesin complex component

HGNC Alias Symbols

KIAA0078; hHR21; SCC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006265.3
p.R172S
c.516A>T
Surrounding Variants
1 paper
NM_006265.3
p.R172S
c.516A>C
1 paper
NM_006265.3
p.R172K
c.515G>A
1 paper
NM_006265.3
p.S175G
c.523A>G
1 paper
NM_006265.3
p.A176fs
c.526_527fs
1 paper
NM_006265.3
p.S175_A176insFs
c.523_526dup4
1 paper
NM_006265.3
p.F177fs
c.529_530fs
1 paper
NM_006265.3
p.E178_D179insC
c.532_536ins3
1 paper
NM_006265.3
p.F177delFs
c.531delA
1 paper
NM_006265.3
p.E178G
c.533A>G
1 paper
NM_006265.3
p.D179Y
c.535G>T
1 paper
NM_006265.3
p.D166G
c.497A>G
2 papers
NM_006265.3
p.M165I
c.495G>T
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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."