Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.F600del1

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.F600del1
c.1798_1799delGAA
Surrounding Variants
1 paper
NM_006265.3
p.F600L
c.1800C>G
1 paper
NM_006265.3
p.F600L
c.1800C>A
2 papers
NM_006265.3
p.L603P
c.1808T>C
1 paper
NM_006265.3
p.F600L
c.1798T>C
1 paper
NM_006265.3
p.K604*
c.1810A>T
1 paper
NM_006265.3
p.K604R
c.1811A>G
1 paper
NM_006265.3
p.L582_Y598ins5
c.1746_1793dup48
1 paper
NM_006265.3
p.K605N
c.1815G>T
2 papers
NM_006265.3
p.K605fs
c.1813_1814fs
1 paper
NM_006265.3
p.K605N
c.1815G>C
1 paper
NM_006265.3
p.K605delFs
c.1814delT
1 paper
NM_006265.3
p.Q606*
c.1816C>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."