Varaico: Literature-Extracted Genetic Variants

ARCN1

81 papers

RefSeq Summary

This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracel...

Pfam Domains

Clat_adaptor_saa 3–140UCSCClathrin adaptor complex small chain

Adap_comp_subaa 261–508UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

archain 1 coat protein complex I subunit delta

HGNC Previous Symbol

COPD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001655.5

p.P219fs

c.655_656fs

Surrounding Variants

2 papers

NM_001655.5

p.S220insFs

c.660dupA

4 papers

NM_001655.5

p.R218Splc

c.654-15A>G

1 paper

NM_001655.5

p.A225V

c.674C>T

1 paper

NM_001655.5

p.K231*

c.691A>T

2 papers

NM_001655.5

p.E234_D236del3

c.700_707del9

1 paper

NM_001655.5

p.M254T

c.761T>C

2 papers

NM_001655.5

p.R257S

c.769C>A

1 paper

NM_001655.5

p.A266V

c.797C>T

1 paper

NM_001655.5

p.P268L

c.803C>T

1 paper

NM_001655.5

p.P214insFs

c.642dupT

1 paper

NM_001655.5

p.V212fs

c.634_635fs

2 papers

NM_001655.5

p.K211delFs

c.633delA