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

8 papers

NM_205768.3

p.R482C

c.1444C>T

Surrounding Variants

1 paper

NM_205768.3

p.R482R

c.1446C>G

1 paper

NM_205768.3

p.T485M

c.1454C>T

1 paper

NM_205768.3

p.W479_G488del10

c.1435_1463del30

4 papers

NM_205768.3

p.Q486E

c.1456C>G

1 paper

NM_205768.3

p.Q486*

c.1456C>T

2 papers

NM_205768.3

p.A476V

c.1427C>T

2 papers

NM_205768.3

p.A476T

c.1426G>A

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.H475insFs

c.1424dupA

4 papers

NM_205768.3

p.D489Y

c.1465G>T

4 papers

NM_205768.3

p.P474L

c.1421C>T