Varaico: Literature-Extracted Genetic Variants

Gene:SMC5
Variant:p.R733Q

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
2 papers
NM_015110.4
p.R733Q
c.2198G>A
Surrounding Variants
1 paper
NM_015110.4
p.R733*
c.2197C>T
1 paper
NM_015110.4
p.A735delFs
c.2203delG
1 paper
NM_015110.4
p.A735fs
c.2203_2204fs
1 paper
NM_015110.4
p.E730Q
c.2188G>C
1 paper
NM_015110.4
p.C726S
c.2177G>C
1 paper
NM_015110.4
p.C726S
c.2176T>A
1 paper
NM_015110.4
p.E741*
c.2221G>T
1 paper
NM_015110.4
p.K748_L749del0
c.2242_2247del6
1 paper
NM_015110.4
p.E752*
c.2254G>T
1 paper
NM_015110.4
p.K758_I759Splc
c.2274+6G>T
1 paper
NM_015110.4
p.L797F
c.2389C>T
1 paper
NM_015110.4
p.K710N
c.2130A>C
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