Varaico: Literature-Extracted Genetic Variants

CTCF

781 papers

RefSeq Summary

This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different c...

Pfam Domains

zf-C2H2aa 266–288UCSCZinc finger, C2H2 type

zf-C2H2aa 294–316UCSCZinc finger, C2H2 type

zf-C2H2aa 322–345UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

CCCTC-binding factor

HGNC Alias Symbols

FAP108; CFAP108

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006565.4

p.H517L

c.1550A>T

Surrounding Variants

2 papers

NM_006565.4

p.H517N

c.1549C>A

1 paper

NM_006565.4

p.H517fs

c.1549_1550fs

2 papers

NM_006565.4

p.H517Y

c.1549C>T

1 paper

NM_006565.4

p.T518_G519delFs

c.1552_1556del5

1 paper

NM_006565.4

p.T518A

c.1552A>G

2 papers

NM_006565.4

p.T518S

c.1552A>T

1 paper

NM_006565.4

p.T518fs

c.1552_1553fs

2 papers

NM_006565.4

p.T518S

c.1553C>G

2 papers

NM_006565.4

p.T516A

c.1546A>G

1 paper

NM_006565.4

p.H517delFs

c.1549delC

1 paper

NM_006565.4

p.T518T

c.1554C>T

4 papers

NM_006565.4

p.G519R

c.1555G>A