Varaico: Literature-Extracted Genetic Variants

Gene:RIF1

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
1–12 of 275 variants
6 papers
NM_018151.5
p.G836S
c.2506G>A
4 papers
NM_018151.5
p.I757V
c.2269A>G
4 papers
NM_018151.5
p.V1362M
c.4084G>A
4 papers
NM_018151.5
p.N1577S
c.4730A>G
4 papers
NM_018151.5
p.E1620K
c.4858G>A
4 papers
NM_018151.5
p.N2021Y
c.6061A>T
3 papers
NM_018151.5
p.K637R
c.1910A>G
3 papers
NM_018151.5
p.M850V
c.2548A>G
3 papers
NM_018151.5
p.P1329L
c.3986C>T
3 papers
NM_018151.5
p.R1421H
c.4262G>A
3 papers
NM_018151.5
p.L2392V
c.7174T>G
3 papers
NM_018151.5
p.D2402Splc
c.7205-7C>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."