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.Q407_D408ins0

c.1221_1223dupGGA

Surrounding Variants

1 paper

NM_001635.4

p.Q418*

c.1252C>T

1 paper

NM_001635.4

p.Q418K

c.1252C>A

1 paper

NM_001635.4

p.G397R

c.1189G>C

1 paper

NM_001635.4

p.E428Q

c.1282G>C

1 paper

NM_001635.4

p.E439K

c.1315G>A

1 paper

NM_001635.4

p.E439D

c.1317G>T

1 paper

NM_001635.4

p.E439D

c.1317G>C

1 paper

NM_001635.4

p.L441M

c.1321C>A

1 paper

NM_001635.4

p.A442D

c.1325C>A

1 paper

NM_001635.4

p.A443S

c.1327G>T

2 papers

NM_001635.4

p.A447T

c.1339G>A

1 paper

NM_001635.4

p.V448G

c.1343T>G