Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.N382K

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.N382K
c.1146T>A
Surrounding Variants
1 paper
NM_006265.3
p.N382K
c.1146T>G
1 paper
NM_006265.3
p.N383I
c.1148A>T
1 paper
NM_006265.3
p.L380_W381delFs
c.1140_1143del4
1 paper
NM_006265.3
p.W381*
c.1143G>A
1 paper
NM_006265.3
p.W381*
c.1142G>A
1 paper
NM_006265.3
p.L380_R384del0
c.1138_1152del15
1 paper
NM_006265.3
p.A377_Q378del2
c.1129_1133del6
1 paper
NM_006265.3
p.Q378*
c.1132C>T
6 papers
NM_006265.3
p.K387_L388Splc
c.1161+1G>A
1 paper
NM_006265.3
p.K387_L388Splc
c.1161+2T>A
1 paper
NM_006265.3
p.P376delFs
c.1126delG
13 papers
NM_006265.3
p.P376R
c.1127C>G
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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."