Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.L460V

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.L460V
c.1378T>G
Surrounding Variants
1 paper
NM_001002800.3
p.E457K
c.1369G>A
1 paper
NM_001002800.3
p.N447H
c.1339A>C
2 papers
NM_001002800.3
p.E482K
c.1444G>A
1 paper
NM_001002800.3
p.S489I
c.1466G>T
1 paper
NM_001002800.3
p.S491L
c.1472C>T
1 paper
NM_001002800.3
p.E494Q
c.1480G>C
1 paper
NM_001002800.3
p.E525Q
c.1573G>C
1 paper
NM_001002800.3
p.I544T
c.1631T>C
1 paper
NM_001002800.3
p.E545K
c.1633G>A
1 paper
NM_001002800.3
p.E423Q
c.1267G>C
1 paper
NM_001002800.3
p.E415D
c.1245G>C
1 paper
NM_001002800.3
p.E415D
c.1245G>T
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