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.G53G

c.159T>A

Surrounding Variants

2 papers

NM_001635.4

p.R58Q

c.173G>A

1 paper

NM_001635.4

p.A66S

c.196G>T

1 paper

NM_001635.4

p.A66A

c.198A>T

1 paper

NM_001635.4

p.Q71L

c.212A>T

1 paper

NM_001635.4

p.K76E

c.226A>G

1 paper

NM_001635.4

p.K76R

c.227A>G

2 papers

NM_001635.4

p.R92L

c.275G>T

1 paper

NM_001635.4

p.R92Q

c.275G>A

1 paper

NM_001635.4

p.M97I

c.291G>T

1 paper

NM_001635.4

p.M97I

c.291G>C

1 paper

NM_001635.4

p.M97I

c.291G>A