Varaico: Literature-Extracted Genetic Variants

Gene:SYTL2
Variant:p.I71V

SYTL2

77 papers

RefSeq Summary

The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifical...

Pfam Domains

FYVE_2aa 5–61UCSCFYVE-type zinc finger
FYVE_2aa 5–61UCSCFYVE-type zinc finger
FYVE_2aa 5–61UCSCFYVE-type zinc finger
C2aa 643–755UCSCC2 domain
C2aa 792–899UCSCC2 domain
C2aa 792–899UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin like 2

HGNC Alias Symbols

FLJ20163; FLJ21219; KIAA1597; exophilin-4; CHR11SYT; SLP2; SGA72M; MGC102768; PPP1R151

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_206927.4
p.I71V
c.211A>G
Surrounding Variants
1 paper
NM_206927.4
p.A69T
c.205G>A
1 paper
NM_206927.4
p.H62N
c.184C>A
1 paper
NM_206927.4
p.A84V
c.251C>T
1 paper
NM_206927.4
p.Y55F
c.164A>T
1 paper
NM_206927.4
p.Q45H
c.135G>T
1 paper
NM_206927.4
p.Q45H
c.135G>C
1 paper
NM_206927.4
p.Q44insFs
c.131dupA
1 paper
NM_206927.4
p.W99R
c.295T>C
1 paper
NM_206927.4
p.S128S
c.384C>T
1 paper
NM_206927.4
p.R21R
c.63G>C
3 papers
NM_206927.4
p.R21W
c.61C>T
1 paper
NM_206927.4
p.M16V
c.46A>G
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