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

3 papers

NM_001386993.1

p.A503T

c.1507G>A

Surrounding Variants

1 paper

NM_001386993.1

p.A503S

c.1507G>T

1 paper

NM_001386993.1

p.R506C

c.1516C>T

2 papers

NM_001386993.1

p.C519R

c.1555T>C

1 paper

NM_001386993.1

p.C519Y

c.1556G>A

1 paper

NM_001386993.1

p.K521R

c.1562A>G

1 paper

NM_001386993.1

p.K512_N520delFs

c.1535_1560del26

1 paper

NM_001386993.1

p.F523insFs

c.1567_1568insC

1 paper

NM_001386993.1

p.C522delFs

c.1566delA

2 papers

NM_001386993.1

p.Q525E

c.1573C>G

1 paper

NM_001386993.1

p.N540_F541insG

c.1618_1622ins3

1 paper

NM_001386993.1

p.T544S

c.1630A>T

1 paper

NM_001386993.1

p.G552_K553insC

c.1654_1658ins3