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

1–12 of 139 variants

4 papers

NM_001635.4

p.S285A

c.853T>G

4 papers

NM_001635.4

p.S293A

c.877T>G

4 papers

NM_001635.4

p.T386M

c.1157C>T

3 papers

NM_001635.4

p.N18I

c.53A>T

3 papers

NM_001635.4

p.S262A

c.784T>G

3 papers

NM_001635.4

p.S268A

c.802T>G

3 papers

NM_001635.4

p.P301L

c.902C>T

3 papers

NM_001635.4

p.K496T

c.1487A>C

2 papers

NM_001635.4

p.K35N

c.105A>T

2 papers

NM_001635.4

p.K35N

c.105A>C

2 papers

NM_001635.4

p.R48W

c.142C>T

2 papers

NM_001635.4

p.R58Q

c.173G>A