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.G425R

c.1273G>C

Surrounding Variants

1 paper

NM_205768.3

p.G425R

c.1273G>A

1 paper

NM_205768.3

p.K426Q

c.1276A>C

1 paper

NM_205768.3

p.K426E

c.1276A>G

1 paper

NM_205768.3

p.T427_R436insFs

c.1279_1307dup29

1 paper

NM_205768.3

p.K426R

c.1277A>G

1 paper

NM_205768.3

p.F428delFs

c.1282_1283delTT

1 paper

NM_205768.3

p.S422*

c.1265C>A

2 papers

NM_205768.3

p.S422L

c.1265C>T

1 paper

NM_205768.3

p.F428fs

c.1282_1283fs

4 papers

NM_205768.3

p.F428C

c.1283T>G

1 paper

NM_205768.3

p.T420M

c.1259C>T

1 paper

NM_205768.3

p.T433I

c.1298C>T