Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.G539insFs

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.G539insFs
c.1616_1617insGC
Surrounding Variants
1 paper
NM_001112726.3
p.P541fs
c.1621_1622fs
1 paper
NM_001112726.3
p.P541_T542delFs
c.1623_1624delGA
1 paper
NM_001112726.3
p.T542fs
c.1624_1625fs
1 paper
NM_001112726.3
p.T548P
c.1642A>C
1 paper
NM_001112726.3
p.D561D
c.1683C>T
1 paper
NM_001112726.3
p.A515V
c.1544C>T
1 paper
NM_001112726.3
p.S512F
c.1535C>T
1 paper
NM_001112726.3
p.Q506Q
c.1518G>A
1 paper
NM_001112726.3
p.A576A
c.1728G>A
1 paper
NM_001112726.3
p.E583D
c.1749G>C
1 paper
NM_001112726.3
p.A584A
c.1752C>T
1 paper
NM_001112726.3
p.S478R
c.1432A>C
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