Varaico: Literature-Extracted Genetic Variants

Gene:PDS5A
Variant:p.K43I

PDS5A

68 papers

RefSeq Summary

The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion ...

Pfam Domains

PDS5aa 39–1109UCSCSister chromatid cohesion protein PDS5 protein

Gene Aliases

HGNC Name

PDS5 cohesin associated factor A

HGNC Alias Symbols

KIAA0648; PIG54; SCC-112

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100399.2
p.K43I
c.128A>T
Surrounding Variants
1 paper
NM_001100399.2
p.A24T
c.70G>A
1 paper
NM_001100399.2
p.V17L
c.49G>T
1 paper
NM_001100399.2
p.V17L
c.49G>C
1 paper
NM_001100399.2
p.D2insFs
c.6dupC
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."