Varaico: Literature-Extracted Genetic Variants

Gene:RNF207
Variant:p.E494D

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.E494D
c.1482G>C
Surrounding Variants
1 paper
NM_207396.3
p.E494D
c.1482G>T
1 paper
NM_207396.3
p.L468V
c.1402C>G
1 paper
NM_207396.3
p.E462K
c.1384G>A
1 paper
NM_207396.3
p.S457L
c.1370C>T
2 papers
NM_207396.3
p.Q439H
c.1317G>C
2 papers
NM_207396.3
p.Q439H
c.1317G>T
1 paper
NM_207396.3
p.R432_H433Splc
c.1297-1G>A
1 paper
NM_207396.3
p.H433_Q435del0
c.1297_1305del9
1 paper
NM_207396.3
p.E494_I495Splc
c.1483-1G>T
1 paper
NM_207396.3
p.N505S
c.1514A>G
1 paper
NM_207396.3
p.R425C
c.1273C>T
4 papers
NM_207396.3
p.A421T
c.1261G>A
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