Varaico: Literature-Extracted Genetic Variants

CEP162

6q14.2-q14.3 (UCSC)OMIM PanelApp GTEx

76 papers

Pfam Domains

CEP162_helical_1aa 633–681UCSCCentrosomal protein of 162 kDa first helical domain

CEP162_helical_3aa 840–935UCSCCentrosomal protein of 162 kDa third helical domain

CEP162_coil_midaa 1244–1305UCSCCEP162 middle coiled-coil domain

CEP162_Caa 1316–1384UCSCCEP162 C-terminal coiled-coil domain

Gene Aliases

HGNC Name

centrosomal protein 162

HGNC Previous Symbols

C6orf84; KIAA1009

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014895.4

p.P205Q

c.614C>A

Surrounding Variants

1 paper

NM_014895.4

p.E211G

c.632A>G

1 paper

NM_014895.4

p.E217K

c.649G>A

1 paper

NM_014895.4

p.L243R

c.728T>G

1 paper

NM_014895.4

p.D255Y

c.763G>T

1 paper

NM_014895.4

p.P268L

c.803C>T

1 paper

NM_014895.4

p.N182S

c.545A>G

1 paper

NM_014895.4

p.D307N

c.919G>A

1 paper

NM_014895.4

p.D307E

c.921C>G

1 paper

NM_014895.4

p.D307E

c.921C>A

1 paper

NM_014895.4

p.Q309K

c.925C>A