Varaico: Literature-Extracted Genetic Variants

AP1B1

86 papers

RefSeq Summary

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of so...

Pfam Domains

Adaptin_Naa 10–534UCSCAdaptin N terminal region

Alpha_adaptinC2aa 720–826UCSCAdaptin C-terminal domain

B2-adapt-app_Caa 836–947UCSCBeta2-adaptin appendage, C-terminal sub-domain

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit beta 1

HGNC Previous Symbols

ADTB1; CLAPB2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001127.4

p.N179S

c.536A>G

Surrounding Variants

1 paper

NM_001127.4

p.E213K

c.637G>A

2 papers

NM_001127.4

p.L223P

c.668T>C

2 papers

NM_001127.4

p.L223delFs

c.667delG

1 paper

NM_001127.4

p.L248I

c.742C>A

2 papers

NM_001127.4

p.H250Q

c.750T>A

2 papers

NM_001127.4

p.L257H

c.770T>A

1 paper

NM_001127.4

p.K283M

c.848A>T

1 paper

NM_001127.4

p.E295K

c.883G>A

1 paper

NM_001127.4

p.Q159_K166del8

c.475_497del24

1 paper

NM_001127.4

p.Q159_K166del0

c.477_497del21

1 paper

NM_001127.4

p.H149L

c.446A>T

1 paper

NM_001127.4

p.A146T

c.436G>A