Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.R41*

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_001184751.2
p.R41*
c.121C>T
Surrounding Variants
1 paper
NM_001184751.2
p.T40_L49del10
c.118_146del30
1 paper
NM_024741.3
p.P47S
c.139C>T
1 paper
NM_001184751.2
p.P37S
c.109C>T
1 paper
NM_024741.3
p.P45fs
c.133_134fs
1 paper
NM_024741.3
p.A53insFs
c.158_159insTT
1 paper
NM_024741.3
p.P44S
c.130C>T
1 paper
NM_024741.3
p.L54fs
c.160_161fs
3 papers
NM_024741.3
p.D42E
c.126C>A
3 papers
NM_024741.3
p.D42E
c.126C>G
1 paper
NM_024741.3
p.L40_R49del10
c.118_146del30
1 paper
NM_024741.3
p.G60fs
c.178_179fs
1 paper
NM_024741.3
p.L63_P65delFs
c.188_194del7
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