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.L28L

c.84G>T

Surrounding Variants

2 papers

NM_001635.4

p.K35N

c.105A>T

2 papers

NM_001635.4

p.K35N

c.105A>C

1 paper

NM_001635.4

p.E37*

c.109G>T

1 paper

NM_001635.4

p.E37K

c.109G>A

1 paper

NM_001635.4

p.E37E

c.111A>G

1 paper

NM_001635.4

p.F39I

c.115T>A

1 paper

NM_001635.4

p.Q44*

c.130C>T

1 paper

NM_001635.4

p.F46C

c.137T>G

2 papers

NM_001635.4

p.R48W

c.142C>T