Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.M468V

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.M468V
c.1402A>G
Surrounding Variants
2 papers
NM_006265.3
p.V455_A467del13
c.1363_1400del39
1 paper
NM_006265.3
p.M468insFs
c.1403dupT
1 paper
NM_006265.3
p.A467T
c.1399G>A
1 paper
NM_006265.3
p.E465delFs
c.1394_1395delCT
1 paper
NM_006265.3
p.P470S
c.1408C>T
1 paper
NM_006265.3
p.E465fs
c.1393_1394fs
1 paper
NM_006265.3
p.E465*
c.1393G>T
1 paper
NM_006265.3
p.P471S
c.1411C>T
1 paper
NM_006265.3
p.D464H
c.1390G>C
1 paper
NM_006265.3
p.I463delFs
c.1388_1389delTA
2 papers
NM_006265.3
p.I463fs
c.1387_1388fs
1 paper
NM_006265.3
p.I463K
c.1388T>A
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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."