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.S293S

c.879A>G

Surrounding Variants

1 paper

NM_001635.4

p.P294A

c.880C>G

1 paper

NM_001635.4

p.S293*

c.878C>G

1 paper

NM_001635.4

p.S293*

c.878C>A

4 papers

NM_001635.4

p.S293A

c.877T>G

1 paper

NM_001635.4

p.S293T

c.877T>A

2 papers

NM_001635.4

p.R292W

c.874C>T

1 paper

NM_001635.4

p.P291A

c.871C>G

1 paper

NM_001635.4

p.Q296P

c.887A>C

1 paper

NM_001635.4

p.R290W

c.868C>T

4 papers

NM_001635.4

p.S285A

c.853T>G

1 paper

NM_001635.4

p.A284A

c.852G>A

1 paper

NM_001635.4

p.P271L

c.812C>T