Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.R1421H

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
3 papers
NM_018151.5
p.R1421H
c.4262G>A
Surrounding Variants
1 paper
NM_018151.5
p.E1423*
c.4267G>T
1 paper
NM_018151.5
p.K1412I
c.4235A>T
1 paper
NM_018151.5
p.D1402G
c.4205A>G
1 paper
NM_018151.5
p.E1442fs
c.4324_4325fs
1 paper
NM_018151.5
p.R1443Q
c.4328G>A
1 paper
NM_018151.5
p.E1447K
c.4339G>A
1 paper
NM_018151.5
p.L1451F
c.4351C>T
1 paper
NM_018151.5
p.P1389H
c.4166C>A
1 paper
NM_018151.5
p.N1387D
c.4159A>G
1 paper
NM_018151.5
p.D1460H
c.4378G>C
1 paper
NM_018151.5
p.A1470A
c.4410T>C
1 paper
NM_018151.5
p.E1471D
c.4413A>C
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