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

1–12 of 206 variants

13 papers

NM_205768.3

p.N461S

c.1382A>G

13 papers

NM_205768.3

p.R464H

c.1391G>A

11 papers

NM_205768.3

p.R495G

c.1483C>G

10 papers

NM_205768.3

p.R195*

c.583C>T

8 papers

NM_205768.3

p.E133*

c.397G>T

8 papers

NM_205768.3

p.R482C

c.1444C>T

7 papers

NM_205768.3

p.R45*

c.133C>T

6 papers

NM_205768.3

p.C54R

c.160T>C

6 papers

NM_205768.3

p.G208*

c.622G>T

6 papers

NM_205768.3

p.Q271*

c.811C>T

6 papers

NM_205768.3

p.L434P

c.1301T>C

6 papers

NM_205768.3

p.R464C

c.1390C>T