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

3 papers

NM_005055.5

p.Q124*

c.370C>T

Surrounding Variants

1 paper

NM_005055.5

p.G123D

c.368G>A

2 papers

NM_005055.5

p.G122E

c.365G>A

1 paper

NM_005055.5

p.G122R

c.364G>C

1 paper

NM_005055.5

p.G122R

c.364G>A

2 papers

NM_005055.5

p.Q120delFs

c.358delG

3 papers

NM_005055.5

p.Q120fs

c.358_359fs

1 paper

NM_005055.5

p.G130delFs

c.388delC

1 paper

NM_005055.5

p.N131Y

c.391A>T

1 paper

NM_005055.5

p.A132S

c.394G>T

1 paper

NM_005055.5

p.G114R

c.340G>C

1 paper

NM_005055.5

p.V138I

c.412G>A

5 papers

NM_005055.5

p.F139S

c.416T>C