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.M17V

c.49A>G

Surrounding Variants

1 paper

NM_014895.4

p.Q15H

c.45G>T

1 paper

NM_014895.4

p.Q15H

c.45G>C

1 paper

NM_014895.4

p.E12K

c.34G>A

1 paper

NM_014895.4

p.C4_S5delFs

c.10_13del4

1 paper

NM_014895.4

p.C4fs

c.10_11fs

1 paper

NM_014895.4

p.D23N

c.67G>A

1 paper

NM_014895.4

p.A32G

c.95C>G

1 paper

NM_014895.4

p.D52V

c.155A>T