Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.H15R

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
4 papers
NM_205768.3
p.H15R
c.44A>G
Surrounding Variants
1 paper
NM_205768.3
p.E11V
c.32A>T
1 paper
NM_205768.3
p.L20_C22delFs
c.60_66del7
1 paper
NM_205768.3
p.Q21fs
c.61_62fs
1 paper
NM_205768.3
p.D8Y
c.22G>T
1 paper
NM_205768.3
p.D8delFs
c.23delA
1 paper
NM_205768.3
p.L23L
c.67C>T
1 paper
NM_205768.3
p.V37A
c.110T>C
1 paper
NM_205768.3
p.G40R
c.118G>A
1 paper
NM_205768.3
p.A42V
c.125C>T
1 paper
NM_205768.3
p.F44L
c.130T>C
1 paper
NM_205768.3
p.F44L
c.132C>A
1 paper
NM_205768.3
p.F44L
c.132C>G
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