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

1–12 of 102 variants

4 papers

NM_001655.5

p.R218Splc

c.654-15A>G

4 papers

NM_001655.5

p.R312*

c.934C>T

3 papers

NM_001655.5

p.S53delFs

c.157_158delAG

3 papers

NM_001655.5

p.A157_E158del2

c.469_473del6

3 papers

NM_001655.5

p.R170*

c.508C>T

2 papers

NM_001655.5

p.A6S

c.16G>T

2 papers

NM_001655.5

p.E78del1

c.232_233delGAA

2 papers

NM_001655.5

p.S87*

c.260C>A

2 papers

NM_001655.5

p.K179insFs

c.537dupA

2 papers

NM_001655.5

p.K211delFs

c.633delA

2 papers

NM_001655.5

p.P219fs

c.655_656fs

2 papers

NM_001655.5

p.S220insFs

c.660dupA