Varaico: Literature-Extracted Genetic Variants

Gene:RINT1
Variant:p.L439F

RINT1

109 papers

RefSeq Summary

This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle pr...

Pfam Domains

RINT1_TIP1aa 304–784UCSCRINT-1/TIP-1 family

Gene Aliases

HGNC Name

RAD50 interactor 1

HGNC Alias Symbols

FLJ11785; RINT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021930.6
p.L439F
c.1317G>T
Surrounding Variants
1 paper
NM_021930.6
p.L439F
c.1317G>C
1 paper
NM_021930.6
p.T440M
c.1319C>T
1 paper
NM_021930.6
p.V441A
c.1322T>C
1 paper
NM_021930.6
p.K444insFs
c.1332dupA
1 paper
NM_021930.6
p.R443delFs
c.1329delA
9 papers
NM_021930.6
p.F445Splc
c.1333+1G>A
2 papers
NM_021930.6
p.F445Splc
c.1333+1G>T
1 paper
NM_021930.6
p.S430*
c.1289C>A
3 papers
NM_021930.6
p.S424C
c.1270A>T
1 paper
NM_021930.6
p.T421S
c.1262C>G
1 paper
NM_021930.6
p.T421S
c.1261A>T
3 papers
NM_021930.6
p.P419R
c.1256C>G
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