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.E496V

c.1487A>T

Surrounding Variants

1 paper

NM_020893.6

p.T467delFs

c.1401delA

1 paper

NM_020893.6

p.L419L

c.1257G>T

1 paper

NM_020893.6

p.Q517K

c.1549C>A

1 paper

NM_020893.6

p.Q517R

c.1550A>G

1 paper

NM_020893.6

p.H520R

c.1559A>G

1 paper

NM_020893.6

p.N550K

c.1650C>G

1 paper

NM_020893.6

p.V391M

c.1171G>A

1 paper

NM_020893.6

p.L561I

c.1681C>A

1 paper

NM_020893.6

p.E699K

c.2095G>A

1 paper

NM_020893.6

p.E736ins0

c.2206_2208dupGAG

1 paper

NM_020893.6

p.E752G

c.2255A>G

1 paper

NM_020893.6

p.P331_A333del3

c.991_998del9