Varaico: Literature-Extracted Genetic Variants

Gene:SP5
Variant:p.A227_A228ins1

SP5

75 papers

Pfam Domains

zf-C2H2aa 296–320UCSCZinc finger, C2H2 type
zf-C2H2aa 326–350UCSCZinc finger, C2H2 type
zf-C2H2aa 356–378UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp5 transcription factor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003845.3
p.A227_A228ins1
c.681_682insGCT
Surrounding Variants
1 paper
NM_001003845.3
p.G211C
c.631G>T
1 paper
NM_001003845.3
p.S245S
c.735G>A
1 paper
NM_001003845.3
p.Q249H
c.747G>C
1 paper
NM_001003845.3
p.P193S
c.577C>T
1 paper
NM_001003845.3
p.P188S
c.562C>T
1 paper
NM_001003845.3
p.R176H
c.527G>A
1 paper
NM_001003845.3
p.P172P
c.516G>A
1 paper
NM_001003845.3
p.P286A
c.856C>G
1 paper
NM_001003845.3
p.P156P
c.468G>T
1 paper
NM_001003845.3
p.V300A
c.899T>C
1 paper
NM_001003845.3
p.A143V
c.428C>T
1 paper
NM_001003845.3
p.A315V
c.944C>T
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