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.P414Splc

c.1241+5G>A

Surrounding Variants

2 papers

NM_001655.5

p.P414Splc

c.1241+1G>A

1 paper

NM_001655.5

p.N405D

c.1213A>G

1 paper

NM_001655.5

p.D390G

c.1169A>G

1 paper

NM_001655.5

p.I378fs

c.1132_1133fs

1 paper

NM_001655.5

p.F373delFs

c.1118_1119delTT

1 paper

NM_001655.5

p.E371Q

c.1111G>C

1 paper

NM_001655.5

p.V359I

c.1075G>A

1 paper

NM_001655.5

p.N356S

c.1067A>G

1 paper

NM_001655.5

p.K335R

c.1004A>G

1 paper

NM_001655.5

p.D334insFs

c.1001dupA

1 paper

NM_001655.5

p.Q328_T329Splc

c.984+887T>C

1 paper

NM_001655.5

p.N319K

c.957T>A