Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.Q592del1

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.Q592del1
c.1774_1775delTTG
Surrounding Variants
1 paper
NM_006265.3
p.A593insFs
c.1777_1778ins13
1 paper
NM_006265.3
p.A593P
c.1777G>C
1 paper
NM_006265.3
p.K591_A593insFs
c.1771_1777dup7
1 paper
NM_006265.3
p.R586_Q592delFs
c.1757_1776del20
1 paper
NM_006265.3
p.Q592H
c.1776A>T
1 paper
NM_006265.3
p.Q592H
c.1776A>C
1 paper
NM_006265.3
p.K591_A593delins
c.1773_1777delinsGCTCCTGAGAGGGG
1 paper
NM_006265.3
p.A593fs
c.1777_1778fs
4 papers
NM_006265.3
p.Q592*
c.1774C>T
1 paper
NM_006265.3
p.A594fs
c.1780_1781fs
1 paper
NM_006265.3
p.A594insFs
c.1780_1781ins13
1 paper
NM_006265.3
p.A595S
c.1783G>T
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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."