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.E362D

c.1086A>T

Surrounding Variants

1 paper

NM_006565.4

p.E362D

c.1086A>C

1 paper

NM_006565.4

p.E362A

c.1085A>C

1 paper

NM_006565.4

p.E362delFs

c.1086delA

1 paper

NM_006565.4

p.V361I

c.1081G>A

3 papers

NM_006565.4

p.S360R

c.1080T>A

3 papers

NM_006565.4

p.S360R

c.1080T>G

2 papers

NM_006565.4

p.S360N

c.1079G>A

2 papers

NM_006565.4

p.S360I

c.1079G>T

3 papers

NM_006565.4

p.S360R

c.1078A>C

1 paper

NM_006565.4

p.E362_V363Splc

c.1086+10C>G

4 papers

NM_006565.4

p.A359T

c.1075G>A

1 paper

NM_006565.4

p.A359S

c.1075G>T