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

2 papers

NM_005055.5

p.L96delFs

c.288delC

Surrounding Variants

2 papers

NM_005055.5

p.C97fs

c.289_290fs

4 papers

NM_005055.5

p.C97*

c.291C>A

1 paper

NM_005055.5

p.K95N

c.285G>T

1 paper

NM_005055.5

p.K95N

c.285G>C

1 paper

NM_005055.5

p.K95R

c.284A>G

6 papers

NM_005055.5

p.E94K

c.280G>A

1 paper

NM_005055.5

p.N93S

c.278A>G

1 paper

NM_005055.5

p.S92I

c.275G>T

2 papers

NM_005055.5

p.S92insFs

c.275_276insC

1 paper

NM_005055.5

p.T102A

c.304A>G

8 papers

NM_005055.5

p.R91L

c.272G>T

2 papers

NM_005055.5

p.R91C

c.271C>T