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

3 papers

NM_032493.4

p.I295L

c.883A>C

Surrounding Variants

1 paper

NM_032493.4

p.E292K

c.874G>A

1 paper

NM_032493.4

p.R290C

c.868C>T

1 paper

NM_032493.4

p.H288P

c.863A>C

1 paper

NM_032493.4

p.H288delFs

c.862delC

1 paper

NM_032493.4

p.H286_S289delFs

c.857_866del10

1 paper

NM_032493.4

p.P275H

c.824C>A

1 paper

NM_032493.4

p.L269F

c.805C>T

1 paper

NM_032493.4

p.Q300H

c.900G>C

1 paper

NM_032493.4

p.Q300H

c.900G>T

1 paper

NM_032493.4

p.R303Q

c.908G>A

1 paper

NM_032493.4

p.H313R

c.938A>G

1 paper

NM_032493.4

p.P315S

c.943C>T