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.D1067A

c.3200A>C

Surrounding Variants

1 paper

NM_020893.6

p.A1026A

c.3078C>T

1 paper

NM_020893.6

p.E1013Q

c.3037G>C

3 papers

NM_020893.6

p.R979W

c.2935C>T

1 paper

NM_020893.6

p.V968I

c.2902G>A

1 paper

NM_020893.6

p.L965V

c.2893C>G

1 paper

NM_020893.6

p.E925D

c.2775G>T

1 paper

NM_020893.6

p.K1166*

c.3496A>T

1 paper

NM_020893.6

p.R1200H

c.3599G>A

1 paper

NM_020893.6

p.T856S

c.2567C>G