Varaico: Literature-Extracted Genetic Variants

CTCFL

156 papers

RefSeq Summary

CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that re...

Pfam Domains

zf-C2H2aa 313–336UCSCZinc finger, C2H2 type

zf-C2H2aa 398–421UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

CCCTC-binding factor like

HGNC Alias Symbols

dJ579F20.2; BORIS; CT27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386993.1

p.L156I

c.466C>A

Surrounding Variants

1 paper

NM_001386993.1

p.V160E

c.479T>A

3 papers

NM_001386993.1

p.K168M

c.503A>T

1 paper

NM_001386993.1

p.K168delFs

c.504delC

1 paper

NM_001386993.1

p.E141fs

c.421_422fs

1 paper

NM_001386993.1

p.E141G

c.422A>G

1 paper

NM_001386993.1

p.E141*

c.421G>T

1 paper

NM_001386993.1

p.Q139insFs

c.415_416insA

1 paper

NM_001386993.1

p.L173Q

c.518T>A

1 paper

NM_001386993.1

p.A174T

c.520G>A

1 paper

NM_001386993.1

p.E175V

c.524A>T

1 paper

NM_001386993.1

p.T176N

c.527C>A

2 papers

NM_001386993.1

p.T177A

c.529A>G