Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.D361N

CEP170B

97 papers

Pfam Domains

FHAaa 23–90UCSCFHA domain
FHAaa 23–90UCSCFHA domain
CEP170_Caa 842–1525UCSCCEP170 C-terminus

Gene Aliases

HGNC Name

centrosomal protein 170B

HGNC Previous Symbol

KIAA0284

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001112726.3
p.D361N
c.1081G>A
Surrounding Variants
1 paper
NM_001112726.3
p.K368E
c.1102A>G
1 paper
NM_015005.3
p.H282Y
c.844C>T
1 paper
NM_001112726.3
p.G351D
c.1052G>A
1 paper
NM_001112726.3
p.G381R
c.1141G>A
1 paper
NM_001112726.3
p.G381R
c.1141G>C
1 paper
NM_015005.3
p.I320M
c.960C>G
1 paper
NM_001112726.3
p.A403T
c.1207G>A
1 paper
NM_001112726.3
p.T413fs
c.1237_1238fs
1 paper
NM_001112726.3
p.T413insFs
c.1238_1239insG
1 paper
NM_001112726.3
p.R415Q
c.1244G>A
1 paper
NM_001112726.3
p.R435H
c.1304G>A
1 paper
NM_001112726.3
p.R445C
c.1333C>T
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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."