Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.L372L

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.L372L
c.1114C>T
Surrounding Variants
1 paper
NM_006265.3
p.L372fs
c.1114_1115fs
1 paper
NM_006265.3
p.K371insFs
c.1113dupA
1 paper
NM_006265.3
p.L372M
c.1114C>A
1 paper
NM_006265.3
p.K371fs
c.1111_1112fs
3 papers
NM_006265.3
p.L372fs
c.1114_1115fs
2 papers
NM_006265.3
p.F373L
c.1117T>C
1 paper
NM_006265.3
p.L372delFs
c.1116delC
2 papers
NM_006265.3
p.L372_F373delFs
c.1116_1117delAC
2 papers
NM_006265.3
p.F373L
c.1119T>G
2 papers
NM_006265.3
p.F373L
c.1119T>A
1 paper
NM_006265.3
p.S374_L375delFs
c.1120_1124del5
1 paper
NM_006265.3
p.P376A
c.1126C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."