Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.D24H

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.D24H
c.70G>C
Surrounding Variants
1 paper
NM_001002800.3
p.P23L
c.68C>T
1 paper
NM_001002800.3
p.S28_A30del0
c.83_88del6
1 paper
NM_001002800.3
p.R14K
c.41G>A
1 paper
NM_001002800.3
p.P34L
c.101C>T
1 paper
NM_001002800.3
p.A11insFs
c.33dupC
1 paper
NM_001002800.3
p.T39A
c.115A>G
1 paper
NM_001002800.3
p.T6insFs
c.17dupC
1 paper
NM_001002800.3
p.A43V
c.128C>T
1 paper
NM_001002800.3
p.R3H
c.8G>A
1 paper
NM_001002800.3
p.P2_R3insFs
c.6_7insT
1 paper
NM_001002800.3
p.A72T
c.214G>A
1 paper
NM_001002800.3
p.A72E
c.215C>A
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