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

1–12 of 79 variants

3 papers

NM_001128.6

p.R15Q

c.44G>A

3 papers

NM_001128.6

p.R35W

c.103C>T

3 papers

NM_001128.6

p.E133_M134delFs

c.399_400delTC

3 papers

NM_001128.6

p.D399_C400del2

c.1195_1199del6

2 papers

NM_001128.6

p.R35Q

c.104G>A

2 papers

NM_001128.6

p.R46*

c.136C>T

2 papers

NM_001128.6

p.E133fs

c.397_398fs

2 papers

NM_001128.6

p.Q470P

c.1409A>C

1 paper

NM_001128.6

p.R8Q

c.23G>A

1 paper

NM_001128.6

p.R15W

c.43C>T

1 paper

NM_001128.6

p.T16A

c.46A>G

1 paper

NM_001128.6

p.K29T

c.86A>C