Varaico: Literature-Extracted Genetic Variants

RAPSN

268 papers

RefSeq Summary

This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, an...

Pfam Domains

Rapsyn_Naa 1–80UCSCRapsyn N-terminal myristoylation and linker region

TPR_8aa 208–239UCSCTetratricopeptide repeat

zf-RING_2aa 361–403UCSCRing finger domain

Gene Aliases

HGNC Name

receptor associated protein of the synapse

HGNC Alias Symbols

RNF205; CMS1D; CMS1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005055.5

p.G13E

c.38G>A

Surrounding Variants

1 paper

NM_005055.5

p.K12delins

c.35_36delinsTA

1 paper

NM_005055.5

p.L14fs

c.40_41fs

1 paper

NM_005055.5

p.G13delFs

c.39delC

23 papers

NM_005055.5

p.L14P

c.41T>C

1 paper

NM_005055.5

p.K12E

c.34A>G

7 papers

NM_005055.5

p.L16insFs

c.46_47insC

1 paper

NM_005055.5

p.Q8L

c.23A>T

1 paper

NM_005055.5

p.Q15_Q18delFs

c.43_52del10

1 paper

NM_005055.5

p.Q5R

c.14A>G

1 paper

NM_005055.5

p.D4V

c.11A>T

1 paper

NM_005055.5

p.D4G

c.11A>G

2 papers

NM_005055.5

p.E23insFs

c.67_68insG