Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.D43V

SMC1A

576 papers

RefSeq Summary

Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This...

Pfam Domains

SMC_Naa 3–1211UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 512–629UCSCSMC proteins Flexible Hinge Domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 1A

HGNC Previous Symbol

SMC1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006306.4
p.D43V
c.128A>T
Surrounding Variants
1 paper
NM_006306.4
p.D43N
c.127G>A
1 paper
NM_006306.4
p.A44V
c.131C>T
1 paper
NM_006306.4
p.M42L
c.124A>T
1 paper
NM_006306.4
p.I45V
c.133A>G
1 paper
NM_006306.4
p.I45T
c.134T>C
1 paper
NM_006306.4
p.L41P
c.122T>C
4 papers
NM_006306.4
p.L41F
c.121C>T
2 papers
NM_006306.4
p.S46_F47insFs
c.138_139insA
2 papers
NM_006306.4
p.N40D
c.118A>G
1 paper
NM_006306.4
p.F47fs
c.139_140fs
4 papers
NM_006306.4
p.F47C
c.140T>G
2 papers
NM_006306.4
p.S39*
c.116C>G
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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."