Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.T986A

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.T986A
c.2956A>G
Surrounding Variants
1 paper
NM_018151.5
p.N992I
c.2975A>T
1 paper
NM_018151.5
p.V993fs
c.2977_2978fs
1 paper
NM_018151.5
p.K994_I995insFs
c.2982_2983insC
1 paper
NM_018151.5
p.I995fs
c.2983_2984fs
1 paper
NM_018151.5
p.A1011E
c.3032C>A
1 paper
NM_018151.5
p.A1011A
c.3033A>G
1 paper
NM_018151.5
p.T1013fs
c.3037_3038fs
1 paper
NM_018151.5
p.K1016_E1018del3
c.3046_3053del9
1 paper
NM_018151.5
p.K1016_E1018del0
c.3047_3052del6
1 paper
NM_018151.5
p.E1018*
c.3052G>T
1 paper
NM_018151.5
p.G985_T986Splc
c.2955+12G>T
1 paper
NM_018151.5
p.S1031L
c.3092C>T
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