Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.E205fs

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.E205fs
c.613_614fs
Surrounding Variants
3 papers
NM_006306.4
p.E205E
c.615G>A
2 papers
NM_006306.4
p.E205_A206Splc
c.615+1G>C
1 paper
NM_006306.4
p.E205_A206Splc
c.615+1G>A
1 paper
NM_006306.4
p.E205_A206Splc
c.615+2T>C
1 paper
NM_006306.4
p.E204delFs
c.611_612delTT
2 papers
NM_006306.4
p.E205_A206Splc
c.615+5G>A
3 papers
NM_006306.4
p.K203E
c.607A>G
4 papers
NM_006306.4
p.K200Q
c.598A>C
1 paper
NM_006306.4
p.K197M
c.590A>T
1 paper
NM_006306.4
p.K197E
c.589A>G
1 paper
NM_006306.4
p.R196P
c.587G>C
18 papers
NM_006306.4
p.R196H
c.587G>A
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