Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.G405R

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.G405R
c.1213G>C
Surrounding Variants
1 paper
NM_018151.5
p.G405R
c.1213G>A
1 paper
NM_018151.5
p.P403L
c.1208C>T
1 paper
NM_018151.5
p.P403delFs
c.1209delG
1 paper
NM_018151.5
p.A400D
c.1199C>A
1 paper
NM_018151.5
p.M421fs
c.1261_1262fs
1 paper
NM_018151.5
p.L436L
c.1308T>C
1 paper
NM_018151.5
p.H437R
c.1310A>G
1 paper
NM_018151.5
p.A444V
c.1331C>T
1 paper
NM_018151.5
p.H483R
c.1448A>G
1 paper
NM_018151.5
p.F486L
c.1456T>C
1 paper
NM_018151.5
p.F486L
c.1458T>A
1 paper
NM_018151.5
p.F486L
c.1458T>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."