Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.Q1342R

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.Q1342R
c.4025A>G
Surrounding Variants
1 paper
NM_018151.5
p.E1336Q
c.4006G>C
3 papers
NM_018151.5
p.P1329L
c.3986C>T
4 papers
NM_018151.5
p.V1362M
c.4084G>A
1 paper
NM_018151.5
p.E1363G
c.4088A>G
1 paper
NM_018151.5
p.E1319D
c.3957A>C
1 paper
NM_018151.5
p.E1319D
c.3957A>T
1 paper
NM_018151.5
p.M1306V
c.3916A>G
2 papers
NM_018151.5
p.K1303N
c.3909G>C
2 papers
NM_018151.5
p.K1303N
c.3909G>T
1 paper
NM_018151.5
p.N1387D
c.4159A>G
1 paper
NM_018151.5
p.P1389H
c.4166C>A
1 paper
NM_018151.5
p.R1286I
c.3857G>T
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