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

1 paper

NM_006265.3

p.L451L

c.1353C>T

Surrounding Variants

7 papers

NM_006265.3

p.L451R

c.1352T>G

1 paper

NM_006265.3

p.L451delFs

c.1351delG

1 paper

NM_006265.3

p.Q452fs

c.1354_1355fs

3 papers

NM_006265.3

p.Q452*

c.1354C>T

4 papers

NM_006265.3

p.E453*

c.1357G>T

1 paper

NM_006265.3

p.E453Q

c.1357G>C

3 papers

NM_006265.3

p.R450H

c.1349G>A

1 paper

NM_006265.3

p.E453K

c.1357G>A

3 papers

NM_006265.3

p.R450C

c.1348C>T

1 paper

NM_006265.3

p.R450S

c.1348C>A

1 paper

NM_006265.3

p.S449insFs

c.1345dupA

2 papers

NM_006265.3

p.S449fs

c.1345_1346fs