Varaico: Literature-Extracted Genetic Variants

Gene:CTCFL

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
1–12 of 205 variants
6 papers
NM_001386993.1
p.E50Q
c.148G>C
4 papers
NM_001386993.1
p.R368H
c.1103G>A
3 papers
NM_001386993.1
p.K168M
c.503A>T
3 papers
NM_001386993.1
p.K188M
c.563A>T
3 papers
NM_001386993.1
p.A503T
c.1507G>A
2 papers
NM_001386993.1
p.M1I
c.3G>A
2 papers
NM_001386993.1
p.L80L
c.240G>A
2 papers
NM_001386993.1
p.T177A
c.529A>G
2 papers
NM_001386993.1
p.R368C
c.1102C>T
2 papers
NM_001386993.1
p.Y462*
c.1386C>G
2 papers
NM_001386993.1
p.Y462*
c.1386C>A
2 papers
NM_001386993.1
p.R470C
c.1408C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."