Varaico: Literature-Extracted Genetic Variants

Gene:SYNE3
Variant:p.E494G

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.E494G
c.1481A>G
Surrounding Variants
1 paper
NM_152592.6
p.T497R
c.1490C>G
1 paper
NM_152592.6
p.Q544_S545Splc
c.1633-4G>A
1 paper
NM_152592.6
p.P559T
c.1675C>A
1 paper
NM_152592.6
p.R579R
c.1737G>A
1 paper
NM_152592.6
p.K584I
c.1751A>T
1 paper
NM_152592.6
p.A586A
c.1758C>A
1 paper
NM_152592.6
p.R609S
c.1827G>T
1 paper
NM_152592.6
p.R609S
c.1827G>C
1 paper
NM_152592.6
p.S626F
c.1877C>T
1 paper
NM_152592.6
p.P470L
c.1409C>T
1 paper
NM_152592.6
p.S468R
c.1404C>G
1 paper
NM_152592.6
p.S468R
c.1404C>A
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