Varaico: Literature-Extracted Genetic Variants

Gene:SMC6
Variant:p.L769V

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.L769V
c.2305C>G
Surrounding Variants
1 paper
NM_001142286.2
p.A776T
c.2326G>A
1 paper
NM_001142286.2
p.L727F
c.2179C>T
3 papers
NM_001142286.2
p.A691T
c.2071G>A
1 paper
NM_001142286.2
p.N802K
c.2406C>G
1 paper
NM_001142286.2
p.N802K
c.2406C>A
1 paper
NM_001142286.2
p.Y818C
c.2453A>G
1 paper
NM_001142286.2
p.H825Q
c.2475C>G
1 paper
NM_001142286.2
p.H825Q
c.2475C>A
1 paper
NM_001142286.2
p.S848*
c.2543C>A
1 paper
NM_001142286.2
p.L867M
c.2599C>A
1 paper
NM_001142286.2
p.R873Q
c.2618G>A
1 paper
NM_001142286.2
p.Q643*
c.1927C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."