Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.Y447H

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.Y447H
c.1339T>C
Surrounding Variants
1 paper
NM_205768.3
p.C449W
c.1347C>G
1 paper
NM_205768.3
p.T450A
c.1348A>G
1 paper
NM_205768.3
p.E444Q
c.1330G>C
2 papers
NM_205768.3
p.T450N
c.1349C>A
1 paper
NM_205768.3
p.T450I
c.1349C>T
1 paper
NM_205768.3
p.G443E
c.1328G>A
1 paper
NM_205768.3
p.Q451H
c.1353G>C
1 paper
NM_205768.3
p.Q451H
c.1353G>T
1 paper
NM_205768.3
p.H441Q
c.1323C>A
1 paper
NM_205768.3
p.H441Q
c.1323C>G
2 papers
NM_205768.3
p.C452Y
c.1355G>A
1 paper
NM_205768.3
p.C452C
c.1356C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."