Varaico: Literature-Extracted Genetic Variants

AP3M1

37 papers

RefSeq Summary

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 f...

Pfam Domains

Clat_adaptor_saa 1–136UCSCClathrin adaptor complex small chain

Adap_comp_subaa 165–418UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 3 subunit mu 1

HGNC Previous Name

adaptor related protein complex 3 mu 1 subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012095.6

p.W167C

c.501G>C

Surrounding Variants

1 paper

NM_012095.6

p.W167C

c.501G>T

1 paper

NM_012095.6

p.R168C

c.502C>T

1 paper

NM_012095.6

p.R169R

c.507G>A

1 paper

NM_012095.6

p.T159T

c.477C>T

1 paper

NM_012095.6

p.P158delFs

c.474delG

1 paper

NM_012095.6

p.G154V

c.461G>T

1 paper

NM_012095.6

p.T148T

c.444A>G

1 paper

NM_012095.6

p.I139V

c.415A>G

1 paper

NM_012095.6

p.T125N

c.374C>A

1 paper

NM_012095.6

p.A100V

c.299C>T

1 paper

NM_012095.6

p.Q91*

c.271C>T

1 paper

NM_012095.6

p.V86I

c.256G>A