Varaico: Literature-Extracted Genetic Variants

Gene:CEP131
Variant:p.L575L

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
Selected Variant
1 paper
NM_014984.4
p.L575L
c.1723C>T
Surrounding Variants
1 paper
NM_014984.4
p.E554D
c.1662G>T
1 paper
NM_014984.4
p.E554D
c.1662G>C
1 paper
NM_014984.4
p.E554G
c.1661A>G
1 paper
NM_014984.4
p.W551*
c.1653G>A
1 paper
NM_014984.4
p.W551*
c.1652G>A
2 papers
NM_014984.4
p.A608T
c.1822G>A
1 paper
NM_014984.4
p.R617K
c.1850G>A
1 paper
NM_014984.4
p.A510V
c.1529C>T
1 paper
NM_014984.4
p.K504R
c.1511A>G
1 paper
NM_014984.4
p.N501T
c.1502A>C
1 paper
NM_014984.4
p.H670H
c.2010C>T
1 paper
NM_014984.4
p.R478M
c.1433G>T
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