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.F107L

c.319T>C

Surrounding Variants

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

1 paper

NM_005498.5

p.R104Q

c.311G>A

1 paper

NM_005498.5

p.I109I

c.327C>T

1 paper

NM_005498.5

p.D119N

c.355G>A

1 paper

NM_005498.5

p.Q138H

c.414G>C

1 paper

NM_005498.5

p.G163D

c.488G>A

1 paper

NM_005498.5

p.N184T

c.551A>C

1 paper

NM_005498.5

p.G187S

c.559G>A

1 paper

NM_005498.5

p.K199T

c.596A>C

1 paper

NM_005498.5

p.K201M

c.602A>T