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

4 papers

NM_205768.3

p.Q395*

c.1183C>T

Surrounding Variants

1 paper

NM_205768.3

p.Q395_H401del7

c.1183_1202del21

2 papers

NM_205768.3

p.L398V

c.1192C>G

3 papers

NM_205768.3

p.T400M

c.1199C>T

2 papers

NM_205768.3

p.R403delFs

c.1207delC

2 papers

NM_205768.3

p.R403C

c.1207C>T

2 papers

NM_205768.3

p.R403fs

c.1207_1208fs

1 paper

NM_205768.3

p.E404K

c.1210G>A

1 paper

NM_205768.3

p.E404Q

c.1210G>C

1 paper

NM_205768.3

p.L383fs

c.1147_1148fs

2 papers

NM_006352.5

p.P373delFs

c.1118delC

NM_205768.3

p.L383delFs

c.1147delC

2 papers

NM_205768.3

p.R409C

c.1225C>T

1 paper

NM_205768.3

p.Q377*

c.1129C>T