Varaico: Literature-Extracted Genetic Variants

Gene:RAD17
Variant:p.E452D

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.E452D
c.1356A>C
Surrounding Variants
1 paper
NM_133338.3
p.E452D
c.1356A>T
1 paper
NM_133338.3
p.I447fs
c.1339_1340fs
1 paper
NM_133338.3
p.A466T
c.1396G>A
1 paper
NM_133339.2
p.G446E
c.1337G>A
1 paper
NM_133338.3
p.V427_V428insA
c.1279_1283ins3
1 paper
NM_133338.3
p.Y415F
c.1244A>T
1 paper
NM_133338.3
p.L389F
c.1167G>C
1 paper
NM_133338.3
p.L389F
c.1167G>T
1 paper
NM_133338.3
p.K363*
c.1087A>T
1 paper
NM_133338.3
p.K359R
c.1076A>G
1 paper
NM_133338.3
p.K359E
c.1075A>G
1 paper
NM_133338.3
p.S351S
c.1053A>G
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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."