Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.E1075*

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.E1075*
c.3223G>T
Surrounding Variants
1 paper
NM_006306.4
p.F1074insFs
c.3222dupT
1 paper
NM_006306.4
p.N1071S
c.3212A>G
2 papers
NM_006306.4
p.I1081F
c.3241A>T
2 papers
NM_006306.4
p.D1082E
c.3246T>G
2 papers
NM_006306.4
p.D1082E
c.3246T>A
3 papers
NM_006306.4
p.R1066H
c.3197G>A
2 papers
NM_006306.4
p.R1066C
c.3196C>T
1 paper
NM_006306.4
p.I1084fs
c.3250_3251fs
1 paper
NM_006306.4
p.E1083insFs
c.3249dupG
14 papers
NM_006306.4
p.Y1085C
c.3254A>G
1 paper
NM_006306.4
p.K1086E
c.3256A>G
1 paper
NM_006306.4
p.K1063fs
c.3187_3188fs
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