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.D244N

c.730G>A

Surrounding Variants

1 paper

NM_205768.3

p.S238delins

c.713_714delinsAA

1 paper

NM_205768.3

p.L251_S252insFs

c.753_754dupGT

1 paper

NM_205768.3

p.S252F

c.755C>T

1 paper

NM_205768.3

p.Q233*

c.697C>T

1 paper

NM_205768.3

p.S258insFs

c.772dupT

1 paper

NM_205768.3

p.S230F

c.689C>T

3 papers

NM_205768.3

p.S258*

c.773C>A

3 papers

NM_205768.3

p.S258*

c.773C>G

1 paper

NM_205768.3

p.E229G

c.686A>G

1 paper

NM_205768.3

p.E229fs

c.685_686fs

1 paper

NM_205768.3

p.E229delFs

c.686_687delAG

1 paper

NM_205768.3

p.C225Y

c.674G>A