Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.F777L

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.F777L
c.2331T>G
Surrounding Variants
1 paper
NM_006306.4
p.F777L
c.2331T>A
1 paper
NM_006306.4
p.F777L
c.2329T>C
1 paper
NM_006306.4
p.E778V
c.2333A>T
1 paper
NM_006306.4
p.V776A
c.2327T>C
1 paper
NM_006306.4
p.V776M
c.2326G>A
1 paper
NM_006306.4
p.D774E
c.2322T>G
1 paper
NM_006306.4
p.D774E
c.2322T>A
1 paper
NM_006306.4
p.D774V
c.2321A>T
11 papers
NM_006306.4
p.C781F
c.2342G>T
3 papers
NM_006306.4
p.D774N
c.2320G>A
1 paper
NM_006306.4
p.C781Y
c.2342G>A
1 paper
NM_006306.4
p.R782W
c.2344C>T
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