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.F201_F202insFs

c.603_604insA

Surrounding Variants

1 paper

NM_001386993.1

p.F202insFs

c.604_605insA

1 paper

NM_001386993.1

p.L200insFs

c.598_599ins4

1 paper

NM_001386993.1

p.E204insFs

c.610_611insA

1 paper

NM_001386993.1

p.T205_M206delFs

c.615_618del4

1 paper

NM_001386993.1

p.L192insFs

c.574_575insA

1 paper

NM_001386993.1

p.Q190P

c.569A>C

3 papers

NM_001386993.1

p.K188M

c.563A>T

1 paper

NM_001386993.1

p.Q186fs

c.556_557fs

1 paper

NM_001386993.1

p.Q186delFs

c.556_557delTG

1 paper

NM_001386993.1

p.Q186*

c.556C>T

1 paper

NM_001386993.1

p.E184_E185insFs

c.552_553insC

1 paper

NM_001386993.1

p.S220*

c.659C>G