Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.L571F

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
3 papers
NM_006265.3
p.L571F
c.1711C>T
Surrounding Variants
1 paper
NM_006265.3
p.A570insFs
c.1709_1710insC
1 paper
NM_006265.3
p.A572fs
c.1714_1715fs
1 paper
NM_006265.3
p.R569L
c.1706G>T
1 paper
NM_006265.3
p.R569C
c.1705C>T
1 paper
NM_006265.3
p.G575A
c.1724G>C
1 paper
NM_006265.3
p.T574_G575delFs
c.1722_1723delCA
1 paper
NM_006265.3
p.L571_G575delFs
c.1711_1723del13
1 paper
NM_006265.3
p.T574_G575del2
c.1720_1724del6
1 paper
NM_006265.3
p.S578F
c.1733C>T
1 paper
NM_006265.3
p.I579V
c.1735A>G
1 paper
NM_006265.3
p.I579fs
c.1735_1736fs
12 papers
NM_006265.3
p.C585R
c.1753T>C
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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."