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

1–12 of 226 variants

121 papers

NM_005055.5

p.N88K

c.264C>A

115 papers

NM_005055.5

p.N88K

c.264C>G

23 papers

NM_005055.5

p.L14P

c.41T>C

16 papers

NM_005055.5

p.R164C

c.490C>T

15 papers

NM_005055.5

p.E162K

c.484G>A

14 papers

NM_005055.5

p.V45M

c.133G>A

13 papers

NM_005055.5

p.V165M

c.493G>A

11 papers

NM_005055.5

p.R164H

c.491G>A

11 papers

NM_005055.5

p.K373del1

c.1117_1118delCTT

9 papers

NM_005055.5

p.Y152Y

c.456T>C

8 papers

NM_005055.5

p.K64_F65Splc

c.193-15C>A

8 papers

NM_005055.5

p.R91L

c.272G>T