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.R341H

c.1022G>A

Surrounding Variants

1 paper

NM_006565.4

p.R341P

c.1022G>C

1 paper

NM_006565.4

p.R341L

c.1022G>T

4 papers

NM_006565.4

p.R341C

c.1021C>T

2 papers

NM_006565.4

p.R342G

c.1024C>G

14 papers

NM_006565.4

p.R342C

c.1024C>T

1 paper

NM_006565.4

p.H340Q

c.1020T>A

1 paper

NM_006565.4

p.H340Q

c.1020T>G

1 paper

NM_006565.4

p.H340R

c.1019A>G

7 papers

NM_006565.4

p.R342H

c.1025G>A

1 paper

NM_006565.4

p.H340fs

c.1018_1019fs

2 papers

NM_006565.4

p.Y343H

c.1027T>C

3 papers

NM_006565.4

p.Y343C

c.1028A>G