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

2 papers

NM_001386993.1

p.R470C

c.1408C>T

Surrounding Variants

1 paper

NM_001386993.1

p.R470H

c.1409G>A

1 paper

NM_001386993.1

p.Y471fs

c.1411_1412fs

1 paper

NM_001386993.1

p.H468_A472delFs

c.1402_1415del14

2 papers

NM_001386993.1

p.Y462*

c.1386C>G

2 papers

NM_001386993.1

p.Y462*

c.1386C>A

1 paper

NM_001386993.1

p.L458L

c.1374G>A

1 paper

NM_001386993.1

p.R448fs

c.1342_1343fs

1 paper

NM_001386993.1

p.R448H

c.1343G>A

1 paper

NM_001386993.1

p.R448C

c.1342C>T

1 paper

NM_001386993.1

p.V445L

c.1333G>T

1 paper

NM_001386993.1

p.V445L

c.1333G>C

1 paper

NM_001386993.1

p.K496*

c.1486A>T