Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.E415D

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.E415D
c.1245G>C
Surrounding Variants
1 paper
NM_001002800.3
p.E415D
c.1245G>T
1 paper
NM_001002800.3
p.K410R
c.1229A>G
1 paper
NM_001002800.3
p.T408M
c.1223C>T
1 paper
NM_001002800.3
p.E423Q
c.1267G>C
1 paper
NM_001002800.3
p.T380S
c.1138A>T
1 paper
NM_001002800.3
p.K367E
c.1099A>G
3 papers
NM_001002800.3
p.N356S
c.1067A>G
1 paper
NM_001002800.3
p.E342K
c.1024G>A
1 paper
NM_001002800.3
p.Q340P
c.1019A>C
1 paper
NM_001002800.3
p.Q331H
c.993G>C
1 paper
NM_001002800.3
p.Q331H
c.993G>T
1 paper
NM_001002800.3
p.E329Q
c.985G>C
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