Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.L527F

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.L527F
c.1581G>C
Surrounding Variants
1 paper
NM_018151.5
p.L527F
c.1581G>T
1 paper
NM_018151.5
p.S533P
c.1597T>C
1 paper
NM_018151.5
p.N517K
c.1551C>A
1 paper
NM_018151.5
p.N517delins
c.1551delinsCAAA
1 paper
NM_018151.5
p.N517K
c.1551C>G
1 paper
NM_018151.5
p.L549L
c.1647G>T
1 paper
NM_018151.5
p.L508S
c.1523T>C
1 paper
NM_018151.5
p.V550I
c.1648G>A
1 paper
NM_018151.5
p.F486L
c.1458T>A
1 paper
NM_018151.5
p.F486L
c.1458T>G
1 paper
NM_018151.5
p.F486L
c.1456T>C
1 paper
NM_018151.5
p.H483R
c.1448A>G
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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."