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

1–12 of 46 variants

4 papers

NM_020893.6

p.E775_S776ins2

c.2325_2326ins6

3 papers

NM_020893.6

p.R979W

c.2935C>T

2 papers

NM_020893.6

p.A15insFs

c.44_45insA

2 papers

NM_020893.6

p.I779_S780ins0

c.2335_2340dup6

1 paper

NM_020893.6

p.S2_S3ins2

c.6_7ins6

1 paper

NM_020893.6

p.P11S

c.31C>T

1 paper

NM_020893.6

p.A37delFs

c.111delT

1 paper

NM_020893.6

p.M63_S64del1

c.188_190delTGT

1 paper

NM_020893.6

p.W78*

c.234G>A

1 paper

NM_020893.6

p.G111del1

c.331_332delGGT

1 paper

NM_020893.6

p.R253Q

c.758G>A

1 paper

NM_020893.6

p.P331_A333del3

c.991_998del9