Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.G50D

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
2 papers
NM_006306.4
p.G50D
c.149G>A
Surrounding Variants
2 papers
NM_006306.4
p.G50S
c.148G>A
1 paper
NM_006306.4
p.T53fs
c.157_158fs
4 papers
NM_006306.4
p.F47C
c.140T>G
4 papers
NM_006306.4
p.T53insFs
c.157dupA
1 paper
NM_006306.4
p.F47fs
c.139_140fs
2 papers
NM_006306.4
p.S46_F47insFs
c.138_139insA
1 paper
NM_006306.4
p.I45T
c.134T>C
1 paper
NM_006306.4
p.N55N
c.165C>T
1 paper
NM_006306.4
p.I45V
c.133A>G
1 paper
NM_006306.4
p.L56ins1
c.166_167insAGG
1 paper
NM_006306.4
p.L56R
c.167T>G
1 paper
NM_006306.4
p.A44V
c.131C>T
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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."