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.Q451H

c.1353G>C

Surrounding Variants

1 paper

NM_205768.3

p.Q451H

c.1353G>T

2 papers

NM_205768.3

p.C452Y

c.1355G>A

1 paper

NM_205768.3

p.C452C

c.1356C>T

2 papers

NM_205768.3

p.T450N

c.1349C>A

1 paper

NM_205768.3

p.T450I

c.1349C>T

1 paper

NM_205768.3

p.T450A

c.1348A>G

1 paper

NM_205768.3

p.C449W

c.1347C>G

1 paper

NM_205768.3

p.K454M

c.1361A>T

3 papers

NM_205768.3

p.Y447H

c.1339T>C

2 papers

NM_205768.3

p.Y458C

c.1373A>G

1 paper

NM_205768.3

p.E444Q

c.1330G>C

3 papers

NM_205768.3

p.H460Y

c.1378C>T