Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.L1201fs

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.L1201fs
c.3601_3602fs
Surrounding Variants
1 paper
NM_001002800.3
p.S1200_L1201insFs
c.3600_3601insT
1 paper
NM_001002800.3
p.M1218R
c.3653T>G
1 paper
NM_001002800.3
p.E1220Q
c.3658G>C
2 papers
NM_001002800.3
p.R1252*
c.3754C>T
1 paper
NM_001002800.3
p.D1260H
c.3778G>C
1 paper
NM_001002800.3
p.G1264R
c.3790G>A
1 paper
NM_001002800.3
p.T1272A
c.3814A>G
1 paper
NM_001002800.3
p.L1146fs
c.3436_3437fs
1 paper
NM_001002800.3
p.G1138G
c.3414T>G
1 paper
NM_001002800.3
p.R1121R
c.3363A>G
1 paper
NM_001002800.3
p.E1116Q
c.3346G>C
1 paper
NM_001002800.3
p.E1101K
c.3301G>A
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