Varaico: Literature-Extracted Genetic Variants

AMPH

232 papers

RefSeq Summary

This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoanti...

Pfam Domains

BARaa 13–233UCSCBAR domain

Gene Aliases

HGNC Name

amphiphysin

HGNC Previous Names

amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen); amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001635.4

p.K15Q

c.43A>C

Surrounding Variants

3 papers

NM_001635.4

p.N18I

c.53A>T

1 paper

NM_001635.4

p.K5K

c.15G>A

1 paper

NM_001635.4

p.A2A

c.6C>A

1 paper

NM_001635.4

p.M1insFs

c.1dupA