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.A91T

c.271G>A

Surrounding Variants

1 paper

NM_001386993.1

p.V92M

c.274G>A

1 paper

NM_001386993.1

p.H86_A91delFs

c.258_273del16

1 paper

NM_001386993.1

p.V85L

c.253G>T

1 paper

NM_001386993.1

p.S98delFs

c.292_293delCT

1 paper

NM_001386993.1

p.T81S

c.241A>T

2 papers

NM_001386993.1

p.L80L

c.240G>A

1 paper

NM_001386993.1

p.E76A

c.227A>C

1 paper

NM_001386993.1

p.S75R

c.225C>G

1 paper

NM_001386993.1

p.S75R

c.225C>A

1 paper

NM_001386993.1

p.S75R

c.223A>C

1 paper

NM_001386993.1

p.E73delFs

c.219delC

1 paper

NM_001386993.1

p.Q109*

c.325C>T