Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.L192delFs

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.L192delFs
c.574_575delAG
Surrounding Variants
1 paper
NM_006265.3
p.L193insFs
c.579dupA
1 paper
NM_006265.3
p.E194Q
c.580G>C
1 paper
NM_006265.3
p.E194D
c.582G>T
1 paper
NM_006265.3
p.E194D
c.582G>C
1 paper
NM_006265.3
p.N190fs
c.568_569fs
4 papers
NM_006265.3
p.Q197*
c.589C>T
1 paper
NM_006265.3
p.N190_E196delFs
c.568_587del20
8 papers
NM_006265.3
p.S198fs
c.592_593fs
1 paper
NM_006265.3
p.S198_T199ins7
c.592_596ins21
10 papers
NM_006265.3
p.S198insFs
c.592_593dupAG
1 paper
NM_006265.3
p.T199A
c.595A>G
1 paper
NM_006265.3
p.T199_S200insA
c.595_599ins3
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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."