Varaico: Literature-Extracted Genetic Variants

AP1M1

43 papers

RefSeq Summary

The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, an...

Pfam Domains

Clat_adaptor_saa 2–141UCSCClathrin adaptor complex small chain

Adap_comp_subaa 157–422UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit mu 1

HGNC Alias Symbols

AP47; CLAPM2; mu1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032493.4

p.V55delFs

c.163delG

Surrounding Variants

1 paper

NM_032493.4

p.G53R

c.157G>A

1 paper

NM_032493.4

p.G53R

c.157G>C

1 paper

NM_032493.4

p.V55fs

c.163_164fs

1 paper

NM_032493.4

p.V55F

c.163G>T

1 paper

NM_032493.4

p.V55fs

c.163_164fs

1 paper

NM_032493.4

p.M45I

c.135G>A

1 paper

NM_032493.4

p.M45I

c.135G>C

1 paper

NM_032493.4

p.M45I

c.135G>T

1 paper

NM_032493.4

p.E31G

c.92A>G

1 paper

NM_032493.4

p.D24D

c.72C>T

1 paper

NM_032493.4

p.D24N

c.70G>A

1 paper

NM_032493.4

p.I17M

c.51C>G