Varaico: Literature-Extracted Genetic Variants

Gene:SMC5
Variant:p.N940Y

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.N940Y
c.2818A>T
Surrounding Variants
1 paper
NM_015110.4
p.F947fs
c.2839_2840fs
1 paper
NM_015110.4
p.H959Y
c.2875C>T
1 paper
NM_015110.4
p.Q916R
c.2747A>G
1 paper
NM_015110.4
p.E874V
c.2621A>T
1 paper
NM_015110.4
p.L871fs
c.2611_2612fs
1 paper
NM_015110.4
p.A870insFs
c.2609_2610insT
1 paper
NM_015110.4
p.R972*
c.2914C>T
1 paper
NM_015110.4
p.R978*
c.2932C>T
1 paper
NM_015110.4
p.T981S
c.2941A>T
1 paper
NM_015110.4
p.T981S
c.2942C>G
2 papers
NM_015110.4
p.H990D
c.2968C>G
1 paper
NM_015110.4
p.E995Q
c.2983G>C
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