Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.Q392P

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_015005.3
p.Q392P
c.1175A>C
Surrounding Variants
1 paper
NM_001112726.3
p.R469insFs
c.1406_1407insGC
1 paper
NM_001112726.3
p.R475W
c.1423C>T
1 paper
NM_001112726.3
p.S478R
c.1432A>C
1 paper
NM_001112726.3
p.R445C
c.1333C>T
1 paper
NM_001112726.3
p.R435H
c.1304G>A
1 paper
NM_001112726.3
p.Q506Q
c.1518G>A
1 paper
NM_001112726.3
p.R415Q
c.1244G>A
1 paper
NM_001112726.3
p.T413insFs
c.1238_1239insG
1 paper
NM_001112726.3
p.T413fs
c.1237_1238fs
1 paper
NM_001112726.3
p.S512F
c.1535C>T
1 paper
NM_001112726.3
p.A515V
c.1544C>T
1 paper
NM_001112726.3
p.A403T
c.1207G>A
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