Varaico: Literature-Extracted Genetic Variants

Gene:SYTL2
Variant:p.D371E

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
1 paper
NM_206927.4
p.D371E
c.1113T>A
Surrounding Variants
1 paper
NM_206927.4
p.D371E
c.1113T>G
1 paper
NM_206927.4
p.S385insFs
c.1154_1155ins5
1 paper
NM_206927.4
p.V354A
c.1061T>C
1 paper
NM_206927.4
p.Q344H
c.1032G>T
1 paper
NM_206927.4
p.E341*
c.1021G>T
1 paper
NM_206927.4
p.A337V
c.1010C>T
1 paper
NM_206927.4
p.S336F
c.1007C>T
1 paper
NM_001162951.4
p.S335C
c.1004C>G
1 paper
NM_206927.4
p.V333V
c.999G>T
1 paper
NM_206927.4
p.E328*
c.982G>T
1 paper
NM_206927.4
p.T440T
c.1320C>G
1 paper
NM_206927.4
p.V301V
c.903G>C
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