Varaico: Literature-Extracted Genetic Variants

Gene:RESF1
Variant:p.V548D

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.V548D
c.1643T>A
Surrounding Variants
1 paper
NM_018169.4
p.Q542*
c.1624C>T
1 paper
NM_018169.4
p.S563Y
c.1688C>A
1 paper
NM_018169.4
p.P565A
c.1693C>G
1 paper
NM_018169.4
p.E571K
c.1711G>A
3 papers
NM_018169.4
p.S518P
c.1552T>C
1 paper
NM_018169.4
p.D517Y
c.1549G>T
1 paper
NM_018169.4
p.E580*
c.1738G>T
1 paper
NM_018169.4
p.L588F
c.1762C>T
1 paper
NM_018169.4
p.Q590K
c.1768C>A
1 paper
NM_018169.4
p.A591V
c.1772C>T
1 paper
NM_018169.4
p.K593N
c.1779G>C
1 paper
NM_018169.4
p.K593N
c.1779G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."