Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.G1178A

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.G1178A
c.3533G>C
Surrounding Variants
1 paper
NM_001112726.3
p.D1168E
c.3504C>A
1 paper
NM_001112726.3
p.D1168E
c.3504C>G
1 paper
NM_001112726.3
p.R1166H
c.3497G>A
1 paper
NM_001112726.3
p.R1192H
c.3575G>A
1 paper
NM_001112726.3
p.R1207H
c.3620G>A
1 paper
NM_001112726.3
p.P1209P
c.3627C>G
1 paper
NM_001112726.3
p.R1122Q
c.3365G>A
1 paper
NM_001112726.3
p.R1122W
c.3364C>T
1 paper
NM_001112726.3
p.R1238_S1239insG
c.3712_3716ins3
1 paper
NM_001112726.3
p.S1239S
c.3717A>G
1 paper
NM_001112726.3
p.A1242V
c.3725C>T
1 paper
NM_001112726.3
p.Q1095R
c.3284A>G
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