Varaico: Literature-Extracted Genetic Variants

Gene:SMC6
Variant:p.E170G

SMC6

75 papers

Pfam Domains

SMC_Naa 47–1071UCSCRecF/RecN/SMC N terminal domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 6

HGNC Previous Symbol

SMC6L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001142286.2
p.E170G
c.509A>G
Surrounding Variants
1 paper
NM_001142286.2
p.S158_A159insA
c.472_476ins3
1 paper
NM_001142286.2
p.D149H
c.445G>C
1 paper
NM_001142286.2
p.K206_Y207delins
c.618_620delinsAGC
1 paper
NM_001142286.2
p.T214T
c.642G>A
1 paper
NM_001142286.2
p.G240*
c.718G>T
1 paper
NM_001142286.2
p.E242A
c.725A>C
1 paper
NM_001142286.2
p.G81delFs
c.243delC
1 paper
NM_001142286.2
p.R243R
c.729G>A
1 paper
NM_001142286.2
p.Q259L
c.776A>T
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