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

2 papers

NM_206927.4

p.P1334L

c.4001C>T

Surrounding Variants

1 paper

NM_206927.4

p.T1350M

c.4049C>T

1 paper

NM_206927.4

p.S1208S

c.3624T>G

1 paper

NM_206927.4

p.E1496K

c.4486G>A

1 paper

NM_206927.4

p.L1505V

c.4513C>G

1 paper

NM_206927.4

p.K1154_V1155ins5

c.3460_3464ins15

1 paper

NM_206927.4

p.A1147E

c.3440C>A

1 paper

NM_206927.4

p.S1524C

c.4571C>G

1 paper

NM_206927.4

p.I1575fs

c.4723_4724fs

1 paper

NM_206927.4

p.Q1584*

c.4750C>T

1 paper

NM_206927.4

p.D999N

c.2995G>A

1 paper

NM_206927.4

p.D990delFs

c.2969delT

1 paper

NM_206927.4

p.M968V

c.2902A>G