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.H437fs

c.1309_1310fs

Surrounding Variants

1 paper

NM_205768.3

p.H437Y

c.1309C>T

3 papers

NM_205768.3

p.R436H

c.1307G>A

3 papers

NM_205768.3

p.R436L

c.1307G>T

2 papers

NM_205768.3

p.R436C

c.1306C>T

3 papers

NM_205768.3

p.K435R

c.1304A>G

1 paper

NM_205768.3

p.R439insFs

c.1315dupA

7 papers

NM_205768.3

p.L434P

c.1301T>C

NM_006352.5

p.L425P

c.1274T>C

1 paper

NM_205768.3

p.T433I

c.1298C>T

1 paper

NM_205768.3

p.H441Q

c.1323C>A

1 paper

NM_205768.3

p.H441Q

c.1323C>G

1 paper

NM_205768.3

p.G443E

c.1328G>A

1 paper

NM_205768.3

p.E444Q

c.1330G>C