Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.L566H

ZNF408

129 papers

RefSeq Summary

The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein...

Pfam Domains

PRDM2_PRaa 61–179UCSCPR domain zinc finger protein 2, PR domain
zf-C2H2aa 381–403UCSCZinc finger, C2H2 type
zf-C2H2aa 409–431UCSCZinc finger, C2H2 type
zf-C2H2aa 437–459UCSCZinc finger, C2H2 type
zf-C2H2aa 468–490UCSCZinc finger, C2H2 type
zf-C2H2aa 496–518UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 408

HGNC Alias Symbols

FLJ12827; PRDM17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024741.3
p.L566H
c.1697T>A
Surrounding Variants
1 paper
NM_024741.3
p.R567*
c.1699C>T
1 paper
NM_024741.3
p.P563_H564ins6
c.1687_1691ins18
4 papers
NM_024741.3
p.E576_A587del12
c.1726_1760del36
1 paper
NM_024741.3
p.G557_A568del12
c.1669_1703del36
2 papers
NM_024741.3
p.P578S
c.1732C>T
NM_001184751.2
p.P570S
c.1708C>T
1 paper
NM_024741.3
p.C553G
c.1657T>G
5 papers
NM_024741.3
p.C581_T592del12
c.1741_1775del36
3 papers
NM_024741.3
p.L552_P563del12
c.1654_1688del36
1 paper
NM_024741.3
p.C581R
c.1741T>C
1 paper
NM_024741.3
p.Q583K
c.1747C>A
1 paper
NM_024741.3
p.R586C
c.1756C>T
1 paper
NM_001184751.2
p.R578H
c.1733G>A
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."