Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.E1254K

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
2 papers
NM_018151.5
p.E1254K
c.3760G>A
Surrounding Variants
1 paper
NM_018151.5
p.S1245*
c.3734C>A
1 paper
NM_018151.5
p.S1245*
c.3734C>G
1 paper
NM_018151.5
p.N1241D
c.3721A>G
1 paper
NM_018151.5
p.F1272L
c.3814T>C
1 paper
NM_018151.5
p.F1272L
c.3816T>A
1 paper
NM_018151.5
p.F1272L
c.3816T>G
2 papers
NM_018151.5
p.K1274E
c.3820A>G
1 paper
NM_018151.5
p.S1275S
c.3825T>A
2 papers
NM_018151.5
p.S1277F
c.3830C>T
1 paper
NM_018151.5
p.I1280fs
c.3838_3839fs
1 paper
NM_018151.5
p.R1286I
c.3857G>T
1 paper
NM_018151.5
p.Q1219E
c.3655C>G
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