Varaico: Literature-Extracted Genetic Variants

Gene:RNF220
Variant:p.K513E

RNF220

78 papers

Pfam Domains

RNF220aa 217–339UCSCE3 ubiquitin-protein ligase RNF220
RNF220aa 217–339UCSCE3 ubiquitin-protein ligase RNF220
RNF220aa 325–444UCSCE3 ubiquitin-protein ligase RNF220
zf-C3HC4_2aa 513–552UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 220

HGNC Previous Symbol

C1orf164

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018150.4
p.K513E
c.1537A>G
Surrounding Variants
1 paper
NM_018150.4
p.R511S
c.1531C>A
1 paper
NM_018150.4
p.M518T
c.1553T>C
1 paper
NM_018150.4
p.Q505*
c.1513C>T
1 paper
NM_018150.4
p.E485*
c.1453G>T
1 paper
NM_018150.4
p.H534Y
c.1600C>T
4 papers
NM_018150.4
p.W539R
c.1615T>A
4 papers
NM_018150.4
p.W539R
c.1615T>C
1 paper
NM_018150.4
p.A557A
c.1671G>A
1 paper
NM_018150.4
p.R563S
c.1689G>C
1 paper
NM_018150.4
p.R563S
c.1689G>T
1 paper
NM_018150.4
p.E481K
c.1441G>A
1 paper
NM_018150.4
p.K473N
c.1419G>C
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