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.V79insFs

c.235_236dupGT

Surrounding Variants

1 paper

NM_205768.3

p.T80fs

c.238_239fs

1 paper

NM_205768.3

p.P82insFs

c.246dupC

1 paper

NM_205768.3

p.A81A

c.243C>A

1 paper

NM_205768.3

p.L74L

c.220C>T

1 paper

NM_205768.3

p.A83fs

c.247_248fs

2 papers

NM_205768.3

p.L86insFs

c.256dupC

1 paper

NM_205768.3

p.L86delFs

c.256delC

1 paper

NM_205768.3

p.L87delFs

c.259delC

2 papers

NM_205768.3

p.L87fs

c.259_260fs

1 paper

NM_205768.3

p.L60_L66del7

c.178_197del21

6 papers

NM_205768.3

p.C54R

c.160T>C

1 paper

NM_205768.3

p.R48Q

c.143G>A