Varaico: Literature-Extracted Genetic Variants

Gene:SMC5
Variant:p.V527fs

SMC5

97 papers

Pfam Domains

AAA_23aa 55–261UCSCAAA domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 5

HGNC Previous Symbol

SMC5L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015110.4
p.V527fs
c.1579_1580fs
Surrounding Variants
1 paper
NM_015110.4
p.F570delFs
c.1710delT
1 paper
NM_015110.4
p.F570fs
c.1708_1709fs
1 paper
NM_015110.4
p.F570fs
c.1708_1709fs
1 paper
NM_015110.4
p.R599R
c.1797A>G
1 paper
NM_015110.4
p.A640V
c.1919C>T
1 paper
NM_015110.4
p.Q641L
c.1922A>T
1 paper
NM_015110.4
p.I674V
c.2020A>G
1 paper
NM_015110.4
p.K710N
c.2130A>C
1 paper
NM_015110.4
p.C726S
c.2176T>A
1 paper
NM_015110.4
p.C726S
c.2177G>C
1 paper
NM_015110.4
p.E730Q
c.2188G>C
1 paper
NM_015110.4
p.R733*
c.2197C>T
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