Varaico: Literature-Extracted Genetic Variants

Gene:CEP131

CEP131

92 papers

Pfam Domains

CEP131_CCaa 562–684UCSCCEP131 coiled-coil domain
CEP131_Caa 716–777UCSCCEP131 C-terminal domain
CEP131_Caa 773–1037UCSCCEP131 C-terminal domain

Gene Aliases

HGNC Name

centrosomal protein 131

HGNC Previous Symbol

AZI1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
2 papers
NM_014984.4
p.R5W
c.13C>T
2 papers
NM_014984.4
p.S52N
c.155G>A
2 papers
NM_014984.4
p.T397A
c.1189A>G
2 papers
NM_014984.4
p.R409C
c.1225C>T
2 papers
NM_014984.4
p.V473A
c.1418T>C
2 papers
NM_014984.4
p.A608T
c.1822G>A
2 papers
NM_014984.4
p.L878L
c.2634G>C
1 paper
NM_014984.4
p.P15A
c.43C>G
1 paper
NM_014984.4
p.V29V
c.87G>C
1 paper
NM_014984.4
p.G34V
c.101G>T
1 paper
NM_014984.4
p.K40*
c.118A>T
1 paper
NM_014984.4
p.V43I
c.127G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."