Varaico: Literature-Extracted Genetic Variants

AP1M2

37 papers

RefSeq Summary

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with ...

Pfam Domains

Clat_adaptor_saa 2–142UCSCClathrin adaptor complex small chain

Adap_comp_subaa 157–422UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit mu 2

HGNC Alias Symbols

HSMU1B; mu2; AP1-mu2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005498.5

p.L9Q

c.26T>A

Surrounding Variants

1 paper

NM_005498.5

p.D10A

c.29A>C

1 paper

NM_005498.5

p.R19C

c.55C>T

1 paper

NM_005498.5

p.H32N

c.94C>A

1 paper

NM_005498.5

p.R40W

c.118C>T

1 paper

NM_005498.5

p.S72_K73insFs

c.216_217insA

3 papers

NM_005498.5

p.Y85C

c.254A>G

2 papers

NM_005498.5

p.E89_V90Splc

c.267+658A>G

1 paper

NM_005498.5

p.R104Q

c.311G>A

1 paper

NM_005498.5

p.F107L

c.319T>C

1 paper

NM_005498.5

p.F107L

c.321T>G

1 paper

NM_005498.5

p.F107L

c.321T>A

1 paper

NM_005498.5

p.I109T

c.326T>C