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

14 papers

NM_005055.5

p.V45M

c.133G>A

Surrounding Variants

1 paper

NM_005055.5

p.R44H

c.131G>A

1 paper

NM_005055.5

p.R44delFs

c.130delG

2 papers

NM_005055.5

p.L46L

c.136C>T

1 paper

NM_005055.5

p.G41_R42insFs

c.123_124insG

1 paper

NM_005055.5

p.V50insFs

c.148_149ins11

3 papers

NM_005055.5

p.V50fs

c.148_149fs

1 paper

NM_005055.5

p.V50fs

c.148_149fs

4 papers

NM_005055.5

p.T51P

c.151A>C

2 papers

NM_005055.5

p.V50delFs

c.150delG

1 paper

NM_005055.5

p.T51fs

c.151_152fs

1 paper

NM_005055.5

p.D38E

c.114C>G

1 paper

NM_005055.5

p.D38E

c.114C>A