Varaico: Literature-Extracted Genetic Variants

Gene:SYNE3
Variant:p.S468R

SYNE3

68 papers

Pfam Domains

Spectrin_SYNE1_2aa 329–441UCSCNesprin-1, spectrin repeats
Spectrinaa 648–746UCSCSpectrin repeat
SYNE3aa 808–890UCSCNesprin-3 domain
KASHaa 919–975UCSCNuclear envelope localisation domain

Gene Aliases

HGNC Name

spectrin repeat containing nuclear envelope family member 3

HGNC Previous Symbols

C14orf49; LINC00341; C14orf139; NCRNA00341

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152592.6
p.S468R
c.1402A>C
Surrounding Variants
1 paper
NM_152592.6
p.S468R
c.1404C>G
1 paper
NM_152592.6
p.S468R
c.1404C>A
1 paper
NM_152592.6
p.P470L
c.1409C>T
1 paper
NM_152592.6
p.R461Q
c.1382G>A
1 paper
NM_152592.6
p.A438V
c.1313C>T
1 paper
NM_152592.6
p.P406L
c.1217C>T
1 paper
NM_152592.6
p.E401D
c.1203G>T
1 paper
NM_152592.6
p.E401D
c.1203G>C
1 paper
NM_152592.6
p.E401K
c.1201G>A
1 paper
NM_152592.6
p.R391Q
c.1172G>A
1 paper
NM_152592.6
p.L385P
c.1154T>C
1 paper
NM_152592.6
p.E494G
c.1481A>G
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