Varaico: Literature-Extracted Genetic Variants

Gene:ZNF248
Variant:p.E461G

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
1 paper
NM_021045.3
p.E461G
c.1382A>G
Surrounding Variants
1 paper
NM_021045.3
p.K439N
c.1317G>T
1 paper
NM_021045.3
p.K439N
c.1317G>C
1 paper
NM_021045.3
p.T487_G488delFs
c.1461_1462delCT
1 paper
NM_021045.3
p.K490fs
c.1468_1469fs
1 paper
NM_021045.3
p.P491L
c.1472C>T
1 paper
NM_021045.3
p.K499E
c.1495A>G
1 paper
NM_021045.3
p.K504K
c.1512G>A
1 paper
NM_021045.3
p.I508fs
c.1522_1523fs
1 paper
NM_021045.3
p.I508delFs
c.1524delA
2 papers
NM_021045.3
p.Q539H
c.1617G>T
2 papers
NM_021045.3
p.Q539H
c.1617G>C
1 paper
NM_021045.3
p.K546R
c.1637A>G
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