Varaico: Literature-Extracted Genetic Variants

Gene:RESF1
Variant:p.E1301K

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.E1301K
c.3901G>A
Surrounding Variants
1 paper
NM_018169.4
p.L1297fs
c.3889_3890fs
1 paper
NM_018169.4
p.K1293R
c.3878A>G
1 paper
NM_018169.4
p.P1288S
c.3862C>T
1 paper
NM_018169.4
p.C1283R
c.3847T>C
1 paper
NM_018169.4
p.R1322Q
c.3965G>A
1 paper
NM_018169.4
p.V1275F
c.3823G>T
1 paper
NM_018169.4
p.R1332H
c.3995G>A
1 paper
NM_018169.4
p.P1333Q
c.3998C>A
2 papers
NM_018169.4
p.T1338P
c.4012A>C
1 paper
NM_018169.4
p.L1341fs
c.4021_4022fs
1 paper
NM_018169.4
p.K1348*
c.4042A>T
1 paper
NM_018169.4
p.K1232N
c.3696G>C
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