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

1–12 of 796 variants

21 papers

NM_006265.3

p.R65Q

c.194G>A

19 papers

NM_006265.3

p.H208R

c.623A>G

15 papers

NM_006265.3

p.Q474R

c.1421A>G

13 papers

NM_006265.3

p.P376R

c.1127C>G

12 papers

NM_006265.3

p.C585R

c.1753T>C

12 papers

NM_006265.3

p.R586*

c.1756C>T

10 papers

NM_006265.3

p.S198insFs

c.592_593dupAG

10 papers

NM_006265.3

p.A622T

c.1864G>A

9 papers

NM_006265.3

p.A480A

c.1440T>C

8 papers

NM_006265.3

p.S198fs

c.592_593fs

8 papers

NM_006265.3

p.R478*

c.1432C>T

7 papers

NM_006265.3

p.L451R

c.1352T>G