Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.E2396K

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.E2396K
c.7186G>A
Surrounding Variants
1 paper
NM_018151.5
p.E2396A
c.7187A>C
1 paper
NM_018151.5
p.P2394S
c.7180C>T
1 paper
NM_018151.5
p.S2393*
c.7178C>A
1 paper
NM_018151.5
p.S2393*
c.7178C>G
3 papers
NM_018151.5
p.L2392V
c.7174T>G
1 paper
NM_018151.5
p.E2381insFs
c.7142dupA
2 papers
NM_018151.5
p.E2381fs
c.7141_7142fs
1 paper
NM_018151.5
p.D2378E
c.7134T>A
1 paper
NM_018151.5
p.D2378E
c.7134T>G
3 papers
NM_018151.5
p.D2402Splc
c.7205-7C>T
1 paper
NM_018151.5
p.N2416fs
c.7246_7247fs
1 paper
NM_018151.5
p.L2418P
c.7253T>C
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