Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.E1620K

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
4 papers
NM_018151.5
p.E1620K
c.4858G>A
Surrounding Variants
1 paper
NM_018151.5
p.P1617L
c.4850C>T
1 paper
NM_018151.5
p.P1617del1
c.4849_4850delCCG
1 paper
NM_018151.5
p.S1616_P1617del1
c.4848_4850delTCC
1 paper
NM_018151.5
p.K1615E
c.4843A>G
1 paper
NM_018151.5
p.I1614L
c.4840A>C
1 paper
NM_018151.5
p.I1614L
c.4840A>T
1 paper
NM_018151.5
p.S1613G
c.4837A>G
1 paper
NM_018151.5
p.T1627S
c.4879A>T
1 paper
NM_018151.5
p.T1627S
c.4880C>G
1 paper
NM_018151.5
p.K1605E
c.4813A>G
1 paper
NM_018151.5
p.E1598A
c.4793A>C
1 paper
NM_018151.5
p.Q1641H
c.4923A>C
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