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

3 papers

NM_001635.4

p.S268A

c.802T>G

Surrounding Variants

1 paper

NM_001635.4

p.P267H

c.800C>A

1 paper

NM_001635.4

p.E266_P267Fs

c.797_801delinsGCTFs

1 paper

NM_001635.4

p.L270V

c.808C>G

1 paper

NM_001635.4

p.E265Q

c.793G>C

1 paper

NM_001635.4

p.P271L

c.812C>T

3 papers

NM_001635.4

p.S262A

c.784T>G

1 paper

NM_001635.4

p.P261P

c.783A>G

1 paper

NM_001635.4

p.T260A

c.778A>G

1 paper

NM_001635.4

p.A284A

c.852G>A

4 papers

NM_001635.4

p.S285A

c.853T>G

1 paper

NM_001635.4

p.R290W

c.868C>T

1 paper

NM_001635.4

p.P291A

c.871C>G