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

3 papers

NM_005055.5

p.L326P

c.977T>C

Surrounding Variants

1 paper

NM_005055.5

p.Q325H

c.975G>T

2 papers

NM_005055.5

p.Q325*

c.973C>T

1 paper

NM_005055.5

p.L323V

c.967C>G

6 papers

NM_005055.5

p.E333*

c.997G>T

1 paper

NM_005055.5

p.S334G

c.1000A>G

1 paper

NM_005055.5

p.I335S

c.1004T>G

2 papers

NM_005055.5

p.Y336F

c.1007A>T

1 paper

NM_005055.5

p.Q342R

c.1025A>G

3 papers

NM_005055.5

p.E344insFs

c.1030_1031insC

1 paper

NM_005055.5

p.E344fs

c.1030_1031fs

1 paper

NM_005055.5

p.R346W

c.1036C>T

1 paper

NM_005055.5

p.E354K

c.1060G>A