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

1 paper

NM_001655.5

p.P214insFs

c.642dupT

Surrounding Variants

1 paper

NM_001655.5

p.V212fs

c.634_635fs

2 papers

NM_001655.5

p.K211delFs

c.633delA

1 paper

NM_001655.5

p.K209delFs

c.627delA

1 paper

NM_001655.5

p.A197V

c.590C>T

1 paper

NM_001655.5

p.S192_G193del2

c.574_578del6

1 paper

NM_001655.5

p.A190T

c.568G>A

1 paper

NM_001655.5

p.A190P

c.568G>C

1 paper

NM_001655.5

p.S189T

c.565T>A

1 paper

NM_001655.5

p.S188R

c.564C>G

1 paper

NM_001655.5

p.G182E

c.545G>A

1 paper

NM_001655.5

p.A180T

c.538G>A

1 paper

NM_001655.5

p.G177G

c.531C>A