Varaico: Literature-Extracted Genetic Variants

Gene:SYT14
Variant:p.E270_D271del1

SYT14

44 papers

RefSeq Summary

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calciu...

Pfam Domains

C2aa 565–669UCSCC2 domain
C2aa 720–828UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 14

HGNC Alias Symbols

sytXIV; FLJ34198

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001146261.4
p.E270_D271del1
c.810_812delAGA
NM_001146262.4
p.E270del1
c.808_809delGAA
Surrounding Variants
1 paper
NM_001146262.4
p.V227I
c.679G>A
1 paper
NM_001146262.4
p.F191L
c.573T>G
1 paper
NM_001146262.4
p.S172C
c.514A>T
1 paper
NM_001146261.4
p.P210S
c.628C>T
2 papers
NM_001146262.4
p.P159L
c.476C>T
NM_001146261.4
p.P204L
c.611C>T
1 paper
NM_001146261.4
p.P203L
c.608C>T
1 paper
NM_001146262.4
p.Y270_D271del1
c.810_812delTGA
1 paper
NM_001146262.4
p.P288S
c.862C>T
1 paper
NM_001146262.4
p.A312S
c.934G>T
1 paper
NM_001146262.4
p.M337I
c.1011G>A
1 paper
NM_001146262.4
p.M337I
c.1011G>C
1 paper
NM_001146262.4
p.M337I
c.1011G>T
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