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

5 papers

NM_005055.5

p.L361_Y362insFs

c.1083_1084dupCT

Surrounding Variants

1 paper

NM_005055.5

p.Y362F

c.1085A>T

3 papers

NM_005055.5

p.Y362fs

c.1084_1085fs

8 papers

NM_005055.5

p.L361R

c.1082T>G

1 paper

NM_005055.5

p.L365L

c.1095G>A

2 papers

NM_005055.5

p.C366G

c.1096T>G

1 paper

NM_005055.5

p.C366_G367insFs

c.1098_1099insG

3 papers

NM_005055.5

p.G367_E368insFs

c.1101_1102insT

1 paper

NM_005055.5

p.V356M

c.1066G>A

1 paper

NM_005055.5

p.S369A

c.1105T>G

1 paper

NM_005055.5

p.C355*

c.1065C>A

1 paper

NM_005055.5

p.E354K

c.1060G>A

1 paper

NM_005055.5

p.N374insFs

c.1120_1121ins4