Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.V753L

RIF1

252 papers

RefSeq Summary

This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Altern...

Pfam Domains

Rif1_Naa 19–361UCSCRap1-interacting factor 1 N terminal

Gene Aliases

HGNC Name

replication timing regulatory factor 1

HGNC Alias Symbols

FLJ12870; FLJ10599

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018151.5
p.V753L
c.2257G>T
Surrounding Variants
1 paper
NM_018151.5
p.V753L
c.2257G>C
4 papers
NM_018151.5
p.I757V
c.2269A>G
1 paper
NM_018151.5
p.S770P
c.2308T>C
1 paper
NM_018151.5
p.P771Q
c.2312C>A
1 paper
NM_018151.5
p.D825G
c.2474A>G
1 paper
NM_018151.5
p.I834I
c.2502C>T
6 papers
NM_018151.5
p.G836S
c.2506G>A
3 papers
NM_018151.5
p.M850V
c.2548A>G
2 papers
NM_018151.5
p.L864S
c.2591T>C
1 paper
NM_018151.5
p.S869S
c.2607A>G
1 paper
NM_018151.5
p.N882D
c.2644A>G
1 paper
NM_018151.5
p.S748F
c.2243C>T
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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."