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.K496E

c.1486A>G

Surrounding Variants

3 papers

NM_001635.4

p.K496T

c.1487A>C

1 paper

NM_001635.4

p.E490E

c.1470G>A

1 paper

NM_001635.4

p.E503K

c.1507G>A

1 paper

NM_001635.4

p.G486E

c.1457G>A

1 paper

NM_001635.4

p.A510T

c.1528G>A

1 paper

NM_001635.4

p.T514S

c.1541C>G

1 paper

NM_001635.4

p.D474G

c.1421A>G

1 paper

NM_001635.4

p.N557N

c.1671C>T

1 paper

NM_001635.4

p.A563T

c.1687G>A

1 paper

NM_001635.4

p.K566E

c.1696A>G

1 paper

NM_001635.4

p.E570K

c.1708G>A

1 paper

NM_001635.4

p.A572A

c.1716G>C