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

2 papers

NM_014895.4

p.F406delFs

c.1218delA

Surrounding Variants

3 papers

NM_014895.4

p.F406fs

c.1216_1217fs

1 paper

NM_014895.4

p.F406fs

c.1216_1217fs

1 paper

NM_014895.4

p.D410G

c.1229A>G

1 paper

NM_014895.4

p.N403Y

c.1207A>T

1 paper

NM_014895.4

p.V430L

c.1288G>T

1 paper

NM_014895.4

p.V430L

c.1288G>C

1 paper

NM_014895.4

p.E379del1

c.1135_1136delTTC

1 paper

NM_014895.4

p.D441H

c.1321G>C

1 paper

NM_014895.4

p.G505V

c.1514G>T

1 paper

NM_014895.4

p.A508V

c.1523C>T

1 paper

NM_014895.4

p.E529Q

c.1585G>C

1 paper

NM_014895.4

p.P368T

c.1102C>A