Varaico: Literature-Extracted Genetic Variants

Gene:RAD17
Variant:p.N474_T475Splc

RAD17

91 papers

RefSeq Summary

The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response...

Pfam Domains

Rad17aa 83–270UCSCRad17 P-loop domain

Gene Aliases

HGNC Name

RAD17 checkpoint clamp loader component

HGNC Alias Symbols

Rad24; RAD17Sp; CCYC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133338.3
p.N474_T475Splc
c.1423-11T>G
Surrounding Variants
1 paper
NM_133338.3
p.T475I
c.1424C>T
1 paper
NM_133338.3
p.R476L
c.1427G>T
1 paper
NM_133338.3
p.A487fs
c.1459_1460fs
1 paper
NM_133338.3
p.K496E
c.1486A>G
1 paper
NM_133339.2
p.I532K
c.1595T>A
1 paper
NM_133339.2
p.N533K
c.1599T>A
1 paper
NM_133338.3
p.K524N
c.1572G>C
1 paper
NM_133338.3
p.K524N
c.1572G>T
1 paper
NM_133339.2
p.K535_Y536Splc
c.1605+2T>A
1 paper
NM_133338.3
p.A466T
c.1396G>A
1 paper
NM_133338.3
p.E452D
c.1356A>C
1 paper
NM_133338.3
p.E452D
c.1356A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."