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_032645.5

p.C323*

c.969C>A

Surrounding Variants

1 paper

NM_005055.5

p.S383A

c.1147T>G

1 paper

NM_005055.5

p.C382R

c.1144T>C

1 paper

NM_005055.5

p.P381_C382insFs

c.1143_1144insC

6 papers

NM_005055.5

p.P381P

c.1143T>C

1 paper

NM_005055.5

p.Q378_A379insFs

c.1132_1136dup5

3 papers

NM_005055.5

p.Q378*

c.1132C>T

1 paper

NM_005055.5

p.R376R

c.1128G>A

1 paper

NM_005055.5

p.R389Splc

c.1166+1G>C

11 papers

NM_005055.5

p.K373del1

c.1117_1118delCTT

1 paper

NM_005055.5

p.N374insFs

c.1120_1121ins4

1 paper

NM_005055.5

p.S369A

c.1105T>G

3 papers

NM_005055.5

p.G367_E368insFs

c.1101_1102insT