Varaico: Literature-Extracted Genetic Variants

Gene:ZNF248
Variant:p.Q539H

ZNF248

36 papers

Pfam Domains

KRABaa 7–48UCSCKRAB box
zf-C2H2aa 380–402UCSCZinc finger, C2H2 type
zf-C2H2aa 408–430UCSCZinc finger, C2H2 type
zf-C2H2aa 436–458UCSCZinc finger, C2H2 type
zf-C2H2aa 464–486UCSCZinc finger, C2H2 type
zf-C2H2aa 492–514UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 248

HGNC Alias Symbol

bA162G10.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021045.3
p.Q539H
c.1617G>C
Surrounding Variants
2 papers
NM_021045.3
p.Q539H
c.1617G>T
1 paper
NM_021045.3
p.K546R
c.1637A>G
1 paper
NM_021045.3
p.L563P
c.1688T>C
1 paper
NM_021045.3
p.Q567H
c.1701G>T
1 paper
NM_021045.3
p.Q567H
c.1701G>C
1 paper
NM_021045.3
p.I508delFs
c.1524delA
1 paper
NM_021045.3
p.I508fs
c.1522_1523fs
1 paper
NM_021045.3
p.K504K
c.1512G>A
1 paper
NM_021045.3
p.L576P
c.1727T>C
1 paper
NM_021045.3
p.K499E
c.1495A>G
1 paper
NM_021045.3
p.P491L
c.1472C>T
1 paper
NM_021045.3
p.K490fs
c.1468_1469fs
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