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.P1401L

c.4202C>T

Surrounding Variants

2 papers

NM_014895.4

p.A1393V

c.4178C>T

1 paper

NM_014895.4

p.R1370C

c.4108C>T

1 paper

NM_014895.4

p.A1359V

c.4076C>T

1 paper

NM_014895.4

p.K1350K

c.4050A>G

1 paper

NM_014895.4

p.T1340I

c.4019C>T

1 paper

NM_014895.4

p.E1297Q

c.3889G>C

1 paper

NM_014895.4

p.L1294F

c.3880C>T