Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.E1784K

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.E1784K
c.5350G>A
Surrounding Variants
1 paper
NM_018151.5
p.P1781S
c.5341C>T
1 paper
NM_018151.5
p.A1765fs
c.5293_5294fs
1 paper
NM_018151.5
p.G1748A
c.5243G>C
2 papers
NM_018151.5
p.P1828S
c.5482C>T
1 paper
NM_018151.5
p.N1833D
c.5497A>G
1 paper
NM_018151.5
p.M1841L
c.5521A>C
1 paper
NM_018151.5
p.M1841L
c.5521A>T
1 paper
NM_018151.5
p.R1724_V1726del0
c.5170_5178del9
1 paper
NM_018151.5
p.Q1852R
c.5555A>G
1 paper
NM_018151.5
p.V1862I
c.5584G>A
1 paper
NM_018151.5
p.I1705V
c.5113A>G
1 paper
NM_018151.5
p.G1701E
c.5102G>A
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