Varaico: Literature-Extracted Genetic Variants

Gene:TEN1
Variant:p.K116E

TEN1

37 papers

RefSeq Summary

C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 20...

Pfam Domains

Ten1_2aa 3–119UCSCTelomere-capping, CST complex subunit

Gene Aliases

HGNC Name

TEN1 subunit of CST complex

HGNC Previous Symbol

C17orf106

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001113324.3
p.K116E
c.346A>G
Surrounding Variants
1 paper
NM_001113324.3
p.Y115F
c.344A>T
1 paper
NM_001113324.3
p.Y115H
c.343T>C
1 paper
NM_001113324.3
p.R119G
c.355C>G
1 paper
NM_001113324.3
p.R119W
c.355C>T
3 papers
NM_001113324.3
p.R119Q
c.356G>A
1 paper
NM_001113324.3
p.E111D
c.333G>C
1 paper
NM_001113324.3
p.E111D
c.333G>T
1 paper
NM_001113324.3
p.E111G
c.332A>G
1 paper
NM_001113324.3
p.E111K
c.331G>A
1 paper
NM_001113324.3
p.R110Q
c.329G>A
1 paper
NM_001113324.3
p.R110W
c.328C>T
1 paper
NM_001113324.3
p.E106D
c.318A>C
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