Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.E1046K

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.E1046K
c.3136G>A
Surrounding Variants
1 paper
NM_001112726.3
p.A1053T
c.3157G>A
1 paper
NM_001112726.3
p.R1028_S1029insG
c.3082_3086ins3
1 paper
NM_001112726.3
p.R1075W
c.3223C>T
1 paper
NM_001112726.3
p.S1007F
c.3020C>T
1 paper
NM_001112726.3
p.P1086L
c.3257C>T
1 paper
NM_001112726.3
p.Q1095R
c.3284A>G
1 paper
NM_001112726.3
p.R1122W
c.3364C>T
1 paper
NM_001112726.3
p.R1122Q
c.3365G>A
2 papers
NM_001112726.3
p.K968Q
c.2902A>C
1 paper
NM_001112726.3
p.V962I
c.2884G>A
1 paper
NM_001112726.3
p.D957N
c.2869G>A
1 paper
NM_001112726.3
p.V956M
c.2866G>A
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