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.A287T

c.859G>A

Surrounding Variants

1 paper

NM_205768.3

p.D290insFs

c.870dupT

1 paper

NM_006352.5

p.Q271*

c.811C>T

6 papers

NM_205768.3

p.Q271*

c.811C>T

1 paper

NM_205768.3

p.H303Q

c.909T>A

1 paper

NM_205768.3

p.H303Q

c.909T>G

2 papers

NM_205768.3

p.Y267*

c.801T>A

2 papers

NM_205768.3

p.Y267*

c.801T>G

2 papers

NM_205768.3

p.Y267insFs

c.800dupA

1 paper

NM_205768.3

p.V310M

c.928G>A

1 paper

NM_205768.3

p.N314insFs

c.940_941insG

5 papers

NM_205768.3

p.R315delFs

c.943_944delAG

1 paper

NM_205768.3

p.R315fs

c.943_944fs