Varaico: Literature-Extracted Genetic Variants

AP1G1

65 papers

RefSeq Summary

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of protei...

Pfam Domains

Adaptin_Naa 23–574UCSCAdaptin N terminal region

Alpha_adaptinC2aa 705–817UCSCAdaptin C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit gamma 1

HGNC Previous Symbols

CLAPG1; ADTG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001128.6

p.T115M

c.344C>T

Surrounding Variants

2 papers

NM_001128.6

p.E133fs

c.397_398fs

1 paper

NM_001128.6

p.E133fs

c.397_398fs

3 papers

NM_001128.6

p.E133_M134delFs

c.399_400delTC

1 paper

NM_001128.6

p.K155E

c.463A>G

1 paper

NM_001128.6

p.K156K

c.468G>A

1 paper

NM_001128.6

p.K156_A157Splc

c.468+2T>C

1 paper

NM_001128.6

p.N109Splc

c.326+83T>G

1 paper

NM_001128.6

p.G85V

c.254G>T

1 paper

NM_001128.6

p.Q77delFs

c.229delG

1 paper

NM_001128.6

p.Q77K

c.229C>A

1 paper

NM_001128.6

p.L68F

c.204G>T

1 paper

NM_001128.6

p.L68F

c.204G>C