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

3 papers

NM_001655.5

p.A157_E158del2

c.469_473del6

Surrounding Variants

1 paper

NM_001655.5

p.A155T

c.463G>A

1 paper

NM_001655.5

p.E158G

c.473A>G

1 paper

NM_001655.5

p.R153R

c.459T>C

1 paper

NM_001655.5

p.M159V

c.475A>G

1 paper

NM_001655.5

p.Q151*

c.451C>T

3 papers

NM_001655.5

p.R170*

c.508C>T

1 paper

NM_001655.5

p.Q176*

c.526C>T

1 paper

NM_001655.5

p.G177G

c.531C>A

2 papers

NM_001655.5

p.K179insFs

c.537dupA

1 paper

NM_001655.5

p.A180T

c.538G>A

1 paper

NM_001655.5

p.G182E

c.545G>A

1 paper

NM_001655.5

p.S188R

c.564C>G