Varaico: Literature-Extracted Genetic Variants

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

C2aa 643–755UCSCC2 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.S201*

c.602C>A

Surrounding Variants

1 paper

NM_206927.4

p.S201*

c.602C>G

1 paper

NM_206927.4

p.K204fs

c.610_611fs

1 paper

NM_206927.4

p.K204delFs

c.611delT

1 paper

NM_206927.4

p.Q213R

c.638A>G

1 paper

NM_206927.4

p.P236S

c.706C>T

1 paper

NM_206927.4

p.I242V

c.724A>G

1 paper

NM_206927.4

p.A269S

c.805G>T

1 paper

NM_206927.4

p.A269V

c.806C>T

1 paper

NM_206927.4

p.G272R

c.814G>C

1 paper

NM_206927.4

p.G272R

c.814G>A

1 paper

NM_206927.4

p.R276L

c.827G>T

1 paper

NM_206927.4

p.R276P

c.827G>C