Varaico: Literature-Extracted Genetic Variants

Gene:SYNE3
Variant:p.S802G

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.S802G
c.2404A>G
Surrounding Variants
1 paper
NM_152592.6
p.G801E
c.2402G>A
1 paper
NM_152592.6
p.L796del1
c.2386_2387delTAG
2 papers
NM_152592.6
p.L795del1
c.2383_2384delAAG
1 paper
NM_152592.6
p.L796Q
c.2387T>A
1 paper
NM_152592.6
p.T840N
c.2519C>A
1 paper
NM_152592.6
p.K844M
c.2531A>T
1 paper
NM_152592.6
p.R792C
c.2374C>T
1 paper
NM_152592.6
p.N771K
c.2313C>G
1 paper
NM_152592.6
p.N771K
c.2313C>A
1 paper
NM_152592.6
p.W712C
c.2136G>C
2 papers
NM_152592.6
p.K700N
c.2100G>T
2 papers
NM_152592.6
p.K700N
c.2100G>C
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