Varaico: Literature-Extracted Genetic Variants

Gene:RESF1
Variant:p.P349L

RESF1

102 papers

Pfam Domains

DUF4617aa 669–1737UCSCDomain of unknown function (DUF4617)

Gene Aliases

HGNC Name

retroelement silencing factor 1

HGNC Previous Symbols

C12orf35; KIAA1551

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018169.4
p.P349L
c.1046C>T
Surrounding Variants
5 papers
NM_018169.4
p.S352G
c.1054A>G
1 paper
NM_018169.4
p.K341Q
c.1021A>C
1 paper
NM_018169.4
p.T333P
c.997A>C
1 paper
NM_018169.4
p.E329*
c.985G>T
1 paper
NM_018169.4
p.E315K
c.943G>A
1 paper
NM_018169.4
p.R309Q
c.926G>A
1 paper
NM_018169.4
p.L393V
c.1177C>G
1 paper
NM_018169.4
p.S302F
c.905C>T
1 paper
NM_018169.4
p.P277P
c.831T>A
1 paper
NM_018169.4
p.P277del1
c.829_830delCCT
1 paper
NM_018169.4
p.M429V
c.1285A>G
1 paper
NM_018169.4
p.Q267Q
c.801G>A
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