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

3 papers

NM_006565.4

p.G48fs

c.142_143fs

Surrounding Variants

1 paper

NM_006565.4

p.G48A

c.143G>C

1 paper

NM_006565.4

p.G48delFs

c.144delT

1 paper

NM_006565.4

p.G47E

c.140G>A

1 paper

NM_006565.4

p.G47A

c.140G>C

2 papers

NM_006565.4

p.G47R

c.139G>A

2 papers

NM_006565.4

p.G47R

c.139G>C

1 paper

NM_006565.4

p.E49fs

c.145_146fs

3 papers

NM_006565.4

p.G47W

c.139G>T

4 papers

NM_006565.4

p.V50insFs

c.148dupG

1 paper

NM_006565.4

p.G48insFs

c.143dupG

4 papers

NM_006565.4

p.D46N

c.136G>A

1 paper

NM_006565.4

p.V50M

c.148G>A