Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB18
Variant:p.V468L

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.V468L
c.1402G>C
Surrounding Variants
1 paper
NM_205768.3
p.V468L
c.1402G>T
1 paper
NM_205768.3
p.H469Y
c.1405C>T
1 paper
NM_205768.3
p.T470A
c.1408A>G
1 paper
NM_205768.3
p.A466_V467insFs
c.1397_1400dup4
1 paper
NM_006352.5
p.T461I
c.1382C>T
1 paper
NM_205768.3
p.H465Y
c.1393C>T
13 papers
NM_205768.3
p.R464H
c.1391G>A
2 papers
NM_205768.3
p.R464P
c.1391G>C
6 papers
NM_205768.3
p.R464C
c.1390C>T
1 paper
NM_205768.3
p.E472K
c.1414G>A
1 paper
NM_205768.3
p.L462delins
c.1384_1385delinsTA
4 papers
NM_205768.3
p.P474L
c.1421C>T
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