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

6 papers

NM_205768.3

p.G208*

c.622G>T

Surrounding Variants

1 paper

NM_205768.3

p.E209fs

c.625_626fs

1 paper

NM_205768.3

p.E209insFs

c.626_627ins4

1 paper

NM_205768.3

p.P204P

c.612C>T

5 papers

NM_205768.3

p.P212delFs

c.635delC

1 paper

NM_006352.5

p.P195S

c.583C>T

5 papers

NM_205768.3

p.P212fs

c.634_635fs

3 papers

NM_205768.3

p.S200*

c.599C>A

3 papers

NM_205768.3

p.S200*

c.599C>G

3 papers

NM_205768.3

p.S200delFs

c.599delC

1 paper

NM_006352.5

p.A208S

c.622G>T

1 paper

NM_205768.3

p.S198*

c.593C>A

1 paper

NM_205768.3

p.S198*

c.593C>G