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

3 papers

NM_001128.6

p.D399_C400del2

c.1195_1199del6

Surrounding Variants

1 paper

NM_001128.6

p.A398T

c.1192G>A

1 paper

NM_001128.6

p.E395K

c.1183G>A

1 paper

NM_001128.6

p.S369G

c.1105A>G

1 paper

NM_001128.6

p.R416*

c.1246C>T

1 paper

NM_001128.6

p.A437S

c.1309G>T

1 paper

NM_001128.6

p.Q443L

c.1328A>T

1 paper

NM_001128.6

p.L444*

c.1331T>G

1 paper

NM_001128.6

p.L444*

c.1331T>A

1 paper

NM_001128.6

p.S468_Q469del2

c.1402_1406del6

2 papers

NM_001128.6

p.Q470P

c.1409A>C

1 paper

NM_001128.6

p.P471P

c.1413T>A

1 paper

NM_001128.6

p.C492S

c.1475G>C