Varaico: Literature-Extracted Genetic Variants

Gene:SMC4
Variant:p.V972A

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
2 papers
NM_001002800.3
p.V972A
c.2915T>C
Surrounding Variants
1 paper
NM_001002800.3
p.E971_V972del2
c.2911_2915del6
1 paper
NM_001002800.3
p.E980*
c.2938G>T
1 paper
NM_001002800.3
p.S940F
c.2819C>T
1 paper
NM_001002800.3
p.S982S
c.2946C>G
1 paper
NM_001002800.3
p.I1000S
c.2999T>G
1 paper
NM_001002800.3
p.E1048A
c.3143A>C
1 paper
NM_001002800.3
p.D1049G
c.3146A>G
2 papers
NM_001002800.3
p.S1056L
c.3167C>T
1 paper
NM_001002800.3
p.A1077V
c.3230C>T
1 paper
NM_001002800.3
p.E1085Q
c.3253G>C
1 paper
NM_001002800.3
p.E1101K
c.3301G>A
1 paper
NM_001002800.3
p.E1116Q
c.3346G>C
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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."