Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.K1503*

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.K1503*
c.4507A>T
Surrounding Variants
1 paper
NM_018151.5
p.K1503fs
c.4507_4508fs
1 paper
NM_018151.5
p.K1503delFs
c.4507delA
1 paper
NM_018151.5
p.N1502fs
c.4504_4505fs
1 paper
NM_018151.5
p.K1505M
c.4514A>T
1 paper
NM_018151.5
p.K1512E
c.4534A>G
1 paper
NM_018151.5
p.I1521T
c.4562T>C
1 paper
NM_018151.5
p.E1476A
c.4427A>C
1 paper
NM_018151.5
p.E1471D
c.4413A>C
1 paper
NM_018151.5
p.E1471D
c.4413A>T
1 paper
NM_018151.5
p.A1470A
c.4410T>C
1 paper
NM_018151.5
p.R1540T
c.4619G>C
1 paper
NM_018151.5
p.D1460H
c.4378G>C
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