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

3 papers

NM_205768.3

p.H498P

c.1493A>C

Surrounding Variants

1 paper

NM_205768.3

p.H498R

c.1493A>G

1 paper

NM_205768.3

p.R495H

c.1484G>A

11 papers

NM_205768.3

p.R495G

c.1483C>G

NM_006352.5

p.R486G

c.1456C>G

1 paper

NM_205768.3

p.R495C

c.1483C>T

1 paper

NM_205768.3

p.H493R

c.1478A>G

4 papers

NM_205768.3

p.R492G

c.1474A>G

1 paper

NM_205768.3

p.V507_V517del11

c.1519_1550del33

4 papers

NM_205768.3

p.D489Y

c.1465G>T

2 papers

NM_205768.3

p.G488R

c.1462G>A

2 papers

NM_205768.3

p.G488R

c.1462G>C

1 paper

NM_205768.3

p.E510K

c.1528G>A

4 papers

NM_205768.3

p.Q486E

c.1456C>G