Varaico: Literature-Extracted Genetic Variants

Gene:SYNE3
Variant:p.T668M

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
3 papers
NM_152592.6
p.T668M
c.2003C>T
Surrounding Variants
1 paper
NM_152592.6
p.E672K
c.2014G>A
1 paper
NM_152592.6
p.Q662K
c.1984C>A
1 paper
NM_152592.6
p.R675W
c.2023C>T
1 paper
NM_152592.6
p.R661W
c.1981C>T
1 paper
NM_152592.6
p.A683V
c.2048C>T
1 paper
NM_152592.6
p.E649K
c.1945G>A
1 paper
NM_152592.6
p.E689K
c.2065G>A
2 papers
NM_152592.6
p.K700N
c.2100G>T
2 papers
NM_152592.6
p.K700N
c.2100G>C
1 paper
NM_152592.6
p.W712C
c.2136G>C
1 paper
NM_152592.6
p.N771K
c.2313C>G
1 paper
NM_152592.6
p.N771K
c.2313C>A
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