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.K566E

c.1696A>G

Surrounding Variants

1 paper

NM_001635.4

p.A563T

c.1687G>A

1 paper

NM_001635.4

p.E570K

c.1708G>A

1 paper

NM_001635.4

p.A572A

c.1716G>C

1 paper

NM_001635.4

p.N557N

c.1671C>T

1 paper

NM_001635.4

p.T586M

c.1757C>T

1 paper

NM_001635.4

p.T597T

c.1791G>A

1 paper

NM_001635.4

p.S599Y

c.1796C>A

1 paper

NM_001635.4

p.M603I

c.1809G>T

1 paper

NM_001635.4

p.D607N

c.1819G>A

1 paper

NM_001635.4

p.E614D

c.1842G>T

1 paper

NM_001635.4

p.E614D

c.1842G>C

1 paper

NM_001635.4

p.P620L

c.1859C>T