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

8 papers

NM_005055.5

p.K64_F65Splc

c.193-15C>A

Surrounding Variants

4 papers

NM_005055.5

p.K64_F65Splc

c.193-15C>T

1 paper

NM_005055.5

p.K64_F65Splc

c.193-1G>A

1 paper

NM_005055.5

p.F65fs

c.193_194fs

1 paper

NM_005055.5

p.V67L

c.199G>T

3 papers

NM_005055.5

p.A73D

c.218C>A

1 paper

NM_005055.5

p.R74insFs

c.220_221insC

1 paper

NM_005055.5

p.R74Q

c.221G>A

3 papers

NM_005055.5

p.E75insFs

c.224_225insT

1 paper

NM_005055.5

p.L76R

c.227T>G

1 paper

NM_005055.5

p.D78V

c.233A>T

1 paper

NM_005055.5

p.F81L

c.241T>C

1 paper

NM_005055.5

p.F81L

c.243C>G