Varaico: Literature-Extracted Genetic Variants

Gene:RNF207
Variant:p.Q83L

RNF207

103 papers

Pfam Domains

zf-C3HC4aa 25–63UCSCZinc finger, C3HC4 type (RING finger)
zf-B_boxaa 94–145UCSCB-box zinc finger
PML_CCaa 204–373UCSCPML-like, coiled-coil

Gene Aliases

HGNC Name

ring finger protein 207

HGNC Previous Symbol

C1orf188

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207396.3
p.Q83L
c.248A>T
Surrounding Variants
1 paper
NM_207396.3
p.V86A
c.257T>C
1 paper
NM_207396.3
p.D91V
c.272A>T
3 papers
NM_207396.3
p.A95V
c.284C>T
1 paper
NM_207396.3
p.A99T
c.295G>A
1 paper
NM_207396.3
p.C105delFs
c.314delG
1 paper
NM_207396.3
p.Q108_D109Splc
c.324+9G>A
1 paper
NM_207396.3
p.Q64Splc
c.191+7G>C
1 paper
NM_207396.3
p.Q64*
c.190C>T
1 paper
NM_207396.3
p.P61S
c.181C>T
1 paper
NM_207396.3
p.A53V
c.158C>T
1 paper
NM_207396.3
p.R52C
c.154C>T
1 paper
NM_207396.3
p.G47D
c.140G>A
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