Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.S2049A

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.S2049A
c.6145T>G
Surrounding Variants
4 papers
NM_018151.5
p.N2021Y
c.6061A>T
1 paper
NM_018151.5
p.A2082T
c.6244G>A
1 paper
NM_018151.5
p.K2093Q
c.6277A>C
1 paper
NM_018151.5
p.N2101N
c.6303T>C
1 paper
NM_018151.5
p.M2105T
c.6314T>C
1 paper
NM_018151.5
p.E1992fs
c.5974_5975fs
1 paper
NM_018151.5
p.A2128P
c.6382G>C
2 papers
NM_018151.5
p.D1955H
c.5863G>C
1 paper
NM_018151.5
p.S1952S
c.5856T>C
1 paper
NM_018151.5
p.G1936D
c.5807G>A
1 paper
NM_018151.5
p.G1936C
c.5806G>T
1 paper
NM_018151.5
p.T1935S
c.5804C>G
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