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

2 papers

NM_020893.6

p.I779_S780ins0

c.2335_2340dup6

Surrounding Variants

1 paper

NM_020893.6

p.S780ins0

c.2338_2340dupTCC

1 paper

NM_020893.6

p.S781G

c.2341A>G

1 paper

NM_020893.6

p.F777ins0

c.2329_2331dupTTC

1 paper

NM_020893.6

p.S776ins2

c.2326_2327ins6

4 papers

NM_020893.6

p.E775_S776ins2

c.2325_2326ins6

1 paper

NM_020893.6

p.Y771*

c.2313T>G

1 paper

NM_020893.6

p.D761N

c.2281G>A

1 paper

NM_020893.6

p.S813C

c.2437A>T

1 paper

NM_020893.6

p.T856S

c.2567C>G

1 paper

NM_020893.6

p.E925D

c.2775G>T

1 paper

NM_020893.6

p.L965V

c.2893C>G

1 paper

NM_020893.6

p.V968I

c.2902G>A