Varaico: Literature-Extracted Genetic Variants

Gene:ZNF480
Variant:p.E80Q

ZNF480

30 papers

Pfam Domains

KRABaa 26–67UCSCKRAB box
KRABaa 26–67UCSCKRAB box
zf-C2H2aa 231–253UCSCZinc finger, C2H2 type
zf-C2H2aa 231–253UCSCZinc finger, C2H2 type
zf-C2H2aa 259–281UCSCZinc finger, C2H2 type
zf-C2H2aa 259–281UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 480

HGNC Alias Symbol

MGC32104

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_144684.4
p.E80Q
c.238G>C
Surrounding Variants
1 paper
NM_144684.4
p.I68fs
c.202_203fs
1 paper
NM_144684.4
p.G67_I68insFs
c.201_202ins10
1 paper
NM_144684.4
p.D54V
c.161A>T
1 paper
NM_144684.4
p.A119T
c.355G>A
1 paper
NM_144684.4
p.K125R
c.374A>G
1 paper
NM_144684.4
p.L128L
c.384T>G
1 paper
NM_144684.4
p.G150V
c.449G>T
1 paper
NM_144684.4
p.K201_P202ins10
c.601_605ins30
1 paper
NM_144684.4
p.K266Q
c.796A>C
1 paper
NM_144684.4
p.R276*
c.826C>T
1 paper
NM_144684.4
p.A303T
c.907G>A
1 paper
NM_144684.4
p.E311*
c.931G>T
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