Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.Q172E

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.Q172E
c.514C>G
Surrounding Variants
1 paper
NM_024741.3
p.P171A
c.511C>G
2 papers
NM_024741.3
p.P173L
c.518C>T
1 paper
NM_001184751.2
p.T173I
c.518C>T
1 paper
NM_024741.3
p.T181T
c.543C>T
4 papers
NM_024741.3
p.G184_E188del5
c.550_563del15
1 paper
NM_024741.3
p.G184A
c.551G>C
3 papers
NM_024741.3
p.G184_E188del0
c.552_563del12
1 paper
NM_024741.3
p.Q159*
c.475C>T
1 paper
NM_024741.3
p.D186_A190del0
c.557_568del12
1 paper
NM_024741.3
p.D186_A190del5
c.556_569del15
1 paper
NM_024741.3
p.Y158_Q159insTT
c.472_476ins6
1 paper
NM_024741.3
p.E188ins2
c.563_564ins6
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