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

2 papers

NM_205768.3

p.A413T

c.1237G>A

Surrounding Variants

2 papers

NM_205768.3

p.A414T

c.1240G>A

1 paper

NM_205768.3

p.V416I

c.1246G>A

2 papers

NM_205768.3

p.R409C

c.1225C>T

1 paper

NM_205768.3

p.T420M

c.1259C>T

1 paper

NM_205768.3

p.E404K

c.1210G>A

1 paper

NM_205768.3

p.E404Q

c.1210G>C

1 paper

NM_205768.3

p.S422*

c.1265C>A

2 papers

NM_205768.3

p.S422L

c.1265C>T

2 papers

NM_205768.3

p.R403C

c.1207C>T

2 papers

NM_205768.3

p.R403fs

c.1207_1208fs

2 papers

NM_205768.3

p.R403delFs

c.1207delC

1 paper

NM_205768.3

p.G425R

c.1273G>A