Varaico: Literature-Extracted Genetic Variants

AP2B1

65 papers

RefSeq Summary

The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on ...

Pfam Domains

Adaptin_Naa 10–534UCSCAdaptin N terminal region

Alpha_adaptinC2aa 711–817UCSCAdaptin C-terminal domain

B2-adapt-app_Caa 827–935UCSCBeta2-adaptin appendage, C-terminal sub-domain

Gene Aliases

HGNC Name

adaptor related protein complex 2 subunit beta 1

HGNC Previous Symbols

ADTB2; CLAPB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001030006.2

p.Y76_A77delFs

c.227_231del5

Surrounding Variants

1 paper

NM_001030006.2

p.E64fs

c.190_191fs

1 paper

NM_001030006.2

p.K93_D94Splc

c.280-2A>G

1 paper

NM_001030006.2

p.P174delFs

c.521delC

1 paper

NM_001030006.2

p.S48Splc

c.143+2431A>G

1 paper

NM_001030006.2

p.S48Splc

c.143+6A>T

1 paper

NM_001030006.2

p.V43V

c.129G>T

1 paper

NM_001030006.2

p.L18_K19ins1

c.54_55insGTA