Varaico: Literature-Extracted Genetic Variants

Gene:SMC5
Variant:p.P24P

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.P24P
c.72T>A
Surrounding Variants
1 paper
NM_015110.4
p.S26S
c.78G>T
1 paper
NM_015110.4
p.P37Q
c.110C>A
1 paper
NM_015110.4
p.G46insFs
c.137_138ins8
1 paper
NM_015110.4
p.M1_A2insFs
c.3_4insA
1 paper
NM_015110.4
p.M1Fs
c.1delinsTTFs
1 paper
NM_015110.4
p.L62Splc
c.185+4A>C
1 paper
NM_015110.4
p.T63R
c.188C>G
1 paper
NM_015110.4
p.P71S
c.211C>T
1 paper
NM_015110.4
p.K86E
c.256A>G
1 paper
NM_015110.4
p.S87L
c.260C>T
1 paper
NM_015110.4
p.R106insFs
c.317_318ins8
1 paper
NM_015110.4
p.F113insFs
c.339dupT
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