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.T387A

c.1159A>G

Surrounding Variants

1 paper

NM_001635.4

p.Q393H

c.1179G>T

1 paper

NM_001635.4

p.Q393H

c.1179G>C

1 paper

NM_001635.4

p.P394L

c.1181C>T

1 paper

NM_001635.4

p.P394_A395Splc

c.1182+1G>T

1 paper

NM_001635.4

p.T386_T387Splc

c.1159-93C>G

4 papers

NM_001635.4

p.T386M

c.1157C>T

1 paper

NM_001635.4

p.W385L

c.1154G>T

1 paper

NM_001635.4

p.L384Q

c.1151T>A

1 paper

NM_001635.4

p.D383V

c.1148A>T

1 paper

NM_001635.4

p.G397R

c.1189G>C

1 paper

NM_001635.4

p.F359L

c.1077C>G

1 paper

NM_001635.4

p.F359L

c.1077C>A