Varaico: Literature-Extracted Genetic Variants

Gene:RNF169
Variant:p.E214*

RNF169

59 papers

Pfam Domains

zf-C3HC4_3aa 64–110UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 169

HGNC Alias Symbol

KIAA1991

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001098638.2
p.E214*
c.640G>T
Surrounding Variants
1 paper
NM_001098638.2
p.D206N
c.616G>A
1 paper
NM_001098638.2
p.E200*
c.598G>T
1 paper
NM_001098638.2
p.R229fs
c.685_686fs
1 paper
NM_001098638.2
p.C242Y
c.725G>A
1 paper
NM_001098638.2
p.R245H
c.734G>A
1 paper
NM_001098638.2
p.G257G
c.771C>A
1 paper
NM_001098638.2
p.A266E
c.797C>A
1 paper
NM_001098638.2
p.S273F
c.818C>T
1 paper
NM_001098638.2
p.F278V
c.832T>G
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