Varaico: Literature-Extracted Genetic Variants

Gene:SMC5
Variant:p.E995Q

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.E995Q
c.2983G>C
Surrounding Variants
2 papers
NM_015110.4
p.H990D
c.2968C>G
1 paper
NM_015110.4
p.T981S
c.2942C>G
1 paper
NM_015110.4
p.T981S
c.2941A>T
1 paper
NM_015110.4
p.R978*
c.2932C>T
1 paper
NM_015110.4
p.R972*
c.2914C>T
1 paper
NM_015110.4
p.D1019A
c.3056A>C
1 paper
NM_015110.4
p.E1020A
c.3059A>C
1 paper
NM_015110.4
p.N1022S
c.3065A>G
1 paper
NM_015110.4
p.V1033M
c.3097G>A
1 paper
NM_015110.4
p.M1036R
c.3107T>G
1 paper
NM_015110.4
p.K1065Q
c.3193A>C
1 paper
NM_015110.4
p.R1093H
c.3278G>A
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