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.K367R

c.1100A>G

Surrounding Variants

1 paper

NM_006565.4

p.L366L

c.1098A>G

1 paper

NM_006565.4

p.R368S

c.1102C>A

1 paper

NM_006565.4

p.R368fs

c.1102_1103fs

19 papers

NM_006565.4

p.R368C

c.1102C>T

1 paper

NM_006565.4

p.R368delFs

c.1103delG

8 papers

NM_006565.4

p.R368H

c.1103G>A

2 papers

NM_006565.4

p.R368L

c.1103G>T

1 paper

NM_006565.4

p.L366*

c.1097T>A

2 papers

NM_006565.4

p.L366S

c.1097T>C

1 paper

NM_006565.4

p.L366*

c.1097T>G

1 paper

NM_006565.4

p.L366V

c.1096T>G

13 papers

NM_006565.4

p.K365T

c.1094A>C