Varaico: Literature-Extracted Genetic Variants

CCDC180

53 papers

RefSeq Summary

The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this...

Pfam Domains

DUF4455aa 130–598UCSCDomain of unknown function (DUF4455)

DUF4456aa 1344–1548UCSCDomain of unknown function (DUF4456)

Gene Aliases

HGNC Name

coiled-coil domain containing 180

HGNC Previous Symbols

KIAA1529; C9orf174

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020893.6

p.D1328G

c.3983A>G

Surrounding Variants

1 paper

NM_020893.6

p.N1343K

c.4029C>A

1 paper

NM_020893.6

p.N1343K

c.4029C>G

1 paper

NM_020893.6

p.K1378R

c.4133A>G

1 paper

NM_020893.6

p.R1200H

c.3599G>A

1 paper

NM_020893.6

p.K1166*

c.3496A>T

1 paper

NM_020893.6

p.L1555_E1557del0

c.4665_4670del6

1 paper

NM_020893.6

p.R1609Q

c.4826G>A