Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.Q902delFs

SMC4

117 papers

RefSeq Summary

This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromos...

Pfam Domains

SMC_Naa 83–1274UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 612–728UCSCSMC proteins Flexible Hinge Domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 4

HGNC Previous Symbol

SMC4L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002800.3
p.Q902delFs
c.2704delC
Surrounding Variants
1 paper
NM_001002800.3
p.N896K
c.2688T>G
1 paper
NM_001002800.3
p.N895K
c.2685T>A
1 paper
NM_001002800.3
p.N895K
c.2685T>G
1 paper
NM_001002800.3
p.T890_I891insFs
c.2670_2671dupCA
1 paper
NM_001002800.3
p.T921T
c.2763T>G
1 paper
NM_001002800.3
p.A926fs
c.2776_2777fs
2 papers
NM_001002800.3
p.I927delFs
c.2779delA
1 paper
NM_001002800.3
p.I927fs
c.2779_2780fs
1 paper
NM_001002800.3
p.R932K
c.2795G>A
1 paper
NM_001002800.3
p.E869Splc
c.2606-8A>G
1 paper
NM_001002800.3
p.S940F
c.2819C>T
1 paper
NM_001002800.3
p.E971_V972del2
c.2911_2915del6
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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."