Varaico: Literature-Extracted Genetic Variants

CTC1

280 papers

RefSeq Summary

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1...

Pfam Domains

CTC1aa 61–1201UCSCCST, telomere maintenance, complex subunit CTC1

CTC1aa 1051–1124UCSCCST, telomere maintenance, complex subunit CTC1

Gene Aliases

HGNC Name

CST telomere replication complex component 1

HGNC Previous Symbol

C17orf68

Papers

RefSeq ID

Protein change

DNA change

1–12 of 346 variants

24 papers

NM_025099.6

p.C985del1

c.2953_2954delACA

20 papers

NM_025099.6

p.R987W

c.2959C>T

16 papers

NM_025099.6

p.V665G

c.1994T>G

15 papers

NM_025099.6

p.V259M

c.775G>A

14 papers

NM_025099.6

p.A227V

c.680C>T

14 papers

NM_025099.6

p.K242fs

c.724_725fs

13 papers

NM_025099.6

p.R975G

c.2923A>G

12 papers

NM_025099.6

p.L1142H

c.3425T>A

10 papers

NM_025099.6

p.R287*

c.859C>T

10 papers

NM_025099.6

p.R840W

c.2518C>T

10 papers

NM_025099.6

p.V871M

c.2611G>A

9 papers

NM_025099.6

p.K242_A243delFs

c.724_727del4