Varaico: Literature-Extracted Genetic Variants

Gene:CEP131
Variant:p.R454R

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.R454R
c.1360A>C
Surrounding Variants
2 papers
NM_014984.4
p.V473A
c.1418T>C
1 paper
NM_014984.4
p.V473delins
c.1418_1419delinsCA
1 paper
NM_014984.4
p.R476C
c.1426C>T
1 paper
NM_014984.4
p.R476H
c.1427G>A
1 paper
NM_014984.4
p.R478M
c.1433G>T
1 paper
NM_014984.4
p.N501T
c.1502A>C
1 paper
NM_014984.4
p.K504R
c.1511A>G
1 paper
NM_014984.4
p.A510V
c.1529C>T
1 paper
NM_014984.4
p.P418L
c.1253C>T
1 paper
NM_014984.4
p.C410delFs
c.1229_1230delGC
1 paper
NM_014984.4
p.C410fs
c.1228_1229fs
2 papers
NM_014984.4
p.R409C
c.1225C>T
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