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

2 papers

NM_205768.3

p.W193*

c.578G>A

Surrounding Variants

2 papers

NM_205768.3

p.W193*

c.579G>A

11 papers

NM_205768.3

p.R195*

c.583C>T

NM_006352.5

p.R186*

c.556C>T

1 paper

NM_205768.3

p.G190delFs

c.570delG

1 paper

NM_205768.3

p.P197L

c.590C>T

1 paper

NM_205768.3

p.S198*

c.593C>A

1 paper

NM_205768.3

p.S198*

c.593C>G

3 papers

NM_205768.3

p.S200delFs

c.599delC

3 papers

NM_205768.3

p.S200*

c.599C>A

3 papers

NM_205768.3

p.S200*

c.599C>G

1 paper

NM_205768.3

p.A186V

c.557C>T

1 paper

NM_205768.3

p.A186T

c.556G>A

2 papers

NM_205768.3

p.A186P

c.556G>C