Varaico: Literature-Extracted Genetic Variants

ZBTB18

113 papers

RefSeq Summary

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruit...

Pfam Domains

BTBaa 14–121UCSCBTB/POZ domain

zf-C2H2aa 370–392UCSCZinc finger, C2H2 type

zf-C2H2_4aa 410–433UCSCC2H2-type zinc finger

zf-C2H2aa 438–460UCSCZinc finger, C2H2 type

zf-C2H2aa 466–489UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and BTB domain containing 18

HGNC Previous Symbol

ZNF238

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_205768.3

p.F44L

c.130T>C

Surrounding Variants

1 paper

NM_205768.3

p.F44L

c.132C>A

1 paper

NM_205768.3

p.F44L

c.132C>G

7 papers

NM_205768.3

p.R45*

c.133C>T

1 paper

NM_205768.3

p.A42V

c.125C>T

2 papers

NM_205768.3

p.R48*

c.142C>T

1 paper

NM_205768.3

p.G40R

c.118G>A

1 paper

NM_205768.3

p.R48Q

c.143G>A

1 paper

NM_205768.3

p.V37A

c.110T>C

6 papers

NM_205768.3

p.C54R

c.160T>C

1 paper

NM_205768.3

p.L60_L66del7

c.178_197del21

1 paper

NM_205768.3

p.L23L

c.67C>T

1 paper

NM_205768.3

p.Q21fs

c.61_62fs