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.R88fs

c.262_263fs

Surrounding Variants

2 papers

NM_001655.5

p.S87*

c.260C>A

1 paper

NM_001655.5

p.R88insFs

c.262dupA

1 paper

NM_001655.5

p.S87*

c.260C>G

1 paper

NM_001655.5

p.V89_I90Splc

c.267+2T>C

1 paper

NM_001655.5

p.V89_I90Splc

c.267+2T>G

1 paper

NM_001655.5

p.L83L

c.249A>T

2 papers

NM_001655.5

p.E78del1

c.232_233delGAA

1 paper

NM_001655.5

p.T71A

c.211A>G

1 paper

NM_001655.5

p.T70A

c.208A>G

1 paper

NM_001655.5

p.M66fs

c.196_197fs

1 paper

NM_001655.5

p.L64_Y65delFs

c.192_193delGT

1 paper

NM_001655.5

p.R55S

c.165A>C