Varaico: Literature-Extracted Genetic Variants

Gene:SMC6
Variant:p.K615_N616Splc

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.K615_N616Splc
c.1846-24A>T
Surrounding Variants
1 paper
NM_001142286.2
p.M624I
c.1872G>A
1 paper
NM_001142286.2
p.Q625Q
c.1875G>A
1 paper
NM_001142286.2
p.Q643*
c.1927C>T
1 paper
NM_001142286.2
p.P585S
c.1753C>T
3 papers
NM_001142286.2
p.A691T
c.2071G>A
1 paper
NM_001142286.2
p.L727F
c.2179C>T
1 paper
NM_001142286.2
p.L769V
c.2305C>G
1 paper
NM_001142286.2
p.A776T
c.2326G>A
1 paper
NM_001142286.2
p.R559Q
c.1676G>A
1 paper
NM_001142286.2
p.H499D
c.1495C>G
3 papers
NM_001142286.2
p.R464G
c.1390A>G
1 paper
NM_001142286.2
p.K456M
c.1367A>T
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