Varaico: Literature-Extracted Genetic Variants

Gene:DSCC1
Variant:p.T211A

DSCC1

31 papers

RefSeq Summary

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell...

Pfam Domains

Dcc1aa 43–357UCSCSister chromatid cohesion protein Dcc1

Gene Aliases

HGNC Name

DNA replication and sister chromatid cohesion 1

HGNC Alias Symbols

DCC1; hDCC1; MGC5528

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024094.3
p.T211A
c.631A>G
Surrounding Variants
1 paper
NM_024094.3
p.E237*
c.709G>T
1 paper
NM_024094.3
p.G257Splc
c.769+111A>G
1 paper
NM_024094.3
p.I268K
c.803T>A
1 paper
NM_024094.3
p.C269W
c.807T>G
1 paper
NM_024094.3
p.E290G
c.869A>G
1 paper
NM_024094.3
p.Q293*
c.877C>T
2 papers
NM_024094.3
p.I191S
c.572T>G
1 paper
NM_024094.3
p.T181A
c.541A>G
1 paper
NM_024094.3
p.A311V
c.932C>T
1 paper
NM_024094.3
p.D328N
c.982G>A
1 paper
NM_024094.3
p.K162_Y163Splc
c.486+436T>C
1 paper
NM_024094.3
p.R131C
c.391C>T
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