Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.A72T

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.A72T
c.214G>A
Surrounding Variants
1 paper
NM_001002800.3
p.A72E
c.215C>A
1 paper
NM_001002800.3
p.P80fs
c.238_239fs
1 paper
NM_001002800.3
p.M83_V88del6
c.247_263del18
1 paper
NM_001002800.3
p.K119*
c.355A>T
1 paper
NM_001002800.3
p.L145delFs
c.435delA
1 paper
NM_001002800.3
p.I146fs
c.436_437fs
1 paper
NM_001002800.3
p.K170R
c.509A>G
1 paper
NM_001002800.3
p.A43V
c.128C>T
1 paper
NM_001002800.3
p.T39A
c.115A>G
1 paper
NM_001002800.3
p.P34L
c.101C>T
1 paper
NM_001002800.3
p.S28_A30del0
c.83_88del6
1 paper
NM_001002800.3
p.D24H
c.70G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."