Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_006265.3

p.Q613K

c.1837C>A

Surrounding Variants

1 paper

NM_006265.3

p.Q613R

c.1838A>G

1 paper

NM_006265.3

p.E614*

c.1840G>T

1 paper

NM_006265.3

p.L611R

c.1832T>G

2 papers

NM_006265.3

p.E615*

c.1843G>T

3 papers

NM_006265.3

p.P616L

c.1847C>T

1 paper

NM_006265.3

p.Q607_A608insFs

c.1820_1823dup4

1 paper

NM_006265.3

p.A608V

c.1823C>T

1 paper

NM_006265.3

p.S618G

c.1852A>G

1 paper

NM_006265.3

p.Q607*

c.1819C>T

1 paper

NM_006265.3

p.Q606*

c.1816C>T

1 paper

NM_006265.3

p.K605N

c.1815G>T

2 papers

NM_006265.3

p.K605fs

c.1813_1814fs