Varaico: Literature-Extracted Genetic Variants

Gene:CTCFL
Variant:p.K25fs

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 313–336UCSCZinc finger, C2H2 type
zf-C2H2aa 313–336UCSCZinc finger, C2H2 type
zf-C2H2aa 398–421UCSCZinc finger, C2H2 type
zf-C2H2aa 398–421UCSCZinc 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.K25fs
c.73_74fs
Surrounding Variants
1 paper
NM_001386993.1
p.K25delFs
c.75delT
1 paper
NM_001386993.1
p.E24fs
c.70_71fs
1 paper
NM_001386993.1
p.L21_M22insFs
c.63_64ins13
1 paper
NM_001386993.1
p.E30K
c.88G>A
1 paper
NM_001386993.1
p.E30fs
c.88_89fs
1 paper
NM_001386993.1
p.G34E
c.101G>A
1 paper
NM_001386993.1
p.V35L
c.103G>T
1 paper
NM_001386993.1
p.V35L
c.103G>C
1 paper
NM_001386993.1
p.K15*
c.43A>T
1 paper
NM_001386993.1
p.K15insFs
c.43_44insT
1 paper
NM_001386993.1
p.T14T
c.42C>T
1 paper
NM_001386993.1
p.K39I
c.116A>T
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