Varaico: Literature-Extracted Genetic Variants

Gene:RAD17
Variant:p.L546R

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
9 papers
NM_133338.3
p.L546R
c.1637T>G
Surrounding Variants
1 paper
NM_133338.3
p.C545Y
c.1634G>A
1 paper
NM_133338.3
p.L554F
c.1660C>T
4 papers
NM_133338.3
p.L557R
c.1670T>G
1 paper
NM_133338.3
p.K533R
c.1598A>G
1 paper
NM_133339.2
p.K535_Y536Splc
c.1605+2T>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.N533K
c.1599T>A
1 paper
NM_133339.2
p.I532K
c.1595T>A
1 paper
NM_133338.3
p.K496E
c.1486A>G
1 paper
NM_133338.3
p.A487fs
c.1459_1460fs
1 paper
NM_133338.3
p.R476L
c.1427G>T
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