Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.R1122Q

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.R1122Q
c.3365G>A
Surrounding Variants
1 paper
NM_001112726.3
p.R1122W
c.3364C>T
1 paper
NM_001112726.3
p.Q1095R
c.3284A>G
1 paper
NM_001112726.3
p.P1086L
c.3257C>T
1 paper
NM_001112726.3
p.R1166H
c.3497G>A
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.R1075W
c.3223C>T
1 paper
NM_001112726.3
p.G1178A
c.3533G>C
1 paper
NM_001112726.3
p.A1053T
c.3157G>A
1 paper
NM_001112726.3
p.R1192H
c.3575G>A
1 paper
NM_001112726.3
p.E1046K
c.3136G>A
1 paper
NM_001112726.3
p.R1207H
c.3620G>A
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