Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.S126T

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
1 paper
NM_024741.3
p.S126T
c.377G>C
Surrounding Variants
6 papers
NM_024741.3
p.S126N
c.377G>A
NM_001184751.2
p.S118N
c.353G>A
1 paper
NM_024741.3
p.Q125Q
c.375G>A
1 paper
NM_024741.3
p.A122T
c.364G>A
3 papers
NM_024741.3
p.A122fs
c.364_365fs
2 papers
NM_024741.3
p.C121_A122delFs
c.363_364delTG
1 paper
NM_024741.3
p.G118E
c.353G>A
2 papers
NM_024741.3
p.G118*
c.352G>T
1 paper
NM_024741.3
p.W117*
c.351G>A
1 paper
NM_024741.3
p.W117*
c.350G>A
1 paper
NM_024741.3
p.S131Splc
c.393-9G>T
2 papers
NM_024741.3
p.R148Q
c.443G>A
1 paper
NM_001184751.2
p.L145F
c.433C>T
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