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.V476V

c.1428T>G

Surrounding Variants

8 papers

NM_006265.3

p.R478*

c.1432C>T

3 papers

NM_006265.3

p.Q474fs

c.1420_1421fs

15 papers

NM_006265.3

p.Q474R

c.1421A>G

1 paper

NM_006265.3

p.K479E

c.1435A>G

7 papers

NM_006265.3

p.Q474*

c.1420C>T

9 papers

NM_006265.3

p.A480A

c.1440T>C

2 papers

NM_006265.3

p.G481R

c.1441G>C

6 papers

NM_006265.3

p.G481R

c.1441G>A

1 paper

NM_006265.3

p.A480_G481delins

c.1440_1441delinsCA

1 paper

NM_006265.3

p.Q482*

c.1444C>T

1 paper

NM_006265.3

p.P471S

c.1411C>T

1 paper

NM_006265.3

p.P470S

c.1408C>T