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.A153_H154insFs

c.459_460insG

Surrounding Variants

3 papers

NM_005055.5

p.A153S

c.457G>T

9 papers

NM_005055.5

p.Y152Y

c.456T>C

4 papers

NM_005055.5

p.R151P

c.452G>C

1 paper

NM_005055.5

p.N156delFs

c.467delT

1 paper

NM_005055.5

p.K148_A149ins11

c.442_446ins33

6 papers

NM_005055.5

p.E147K

c.439G>A

15 papers

NM_005055.5

p.E162K

c.484G>A

1 paper

NM_005055.5

p.E162G

c.485A>G

16 papers

NM_005055.5

p.R164C

c.490C>T

11 papers

NM_005055.5

p.R164H

c.491G>A

13 papers

NM_005055.5

p.V165M

c.493G>A

4 papers

NM_005055.5

p.A142D

c.425C>A