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.R19Q

c.56G>A

Surrounding Variants

1 paper

NM_001655.5

p.R19_T25del7

c.55_74del21

1 paper

NM_001655.5

p.G13G

c.39A>T

1 paper

NM_001655.5

p.R26Q

c.77G>A

1 paper

NM_001655.5

p.C9Y

c.26G>A

1 paper

NM_001655.5

p.E30V

c.89A>T

1 paper

NM_001655.5

p.A7V

c.20C>T

1 paper

NM_001655.5

p.A7_C9delFs

c.19_25del7

1 paper

NM_001655.5

p.A7_C9del3

c.19_26del9

2 papers

NM_001655.5

p.A6S

c.16G>T

1 paper

NM_001655.5

p.A5A

c.15A>G

1 paper

NM_001655.5

p.L3del1

c.7_9delCTG

1 paper

NM_001655.5

p.T47T

c.141G>A