Varaico: Literature-Extracted Genetic Variants

POC1B

96 papers

RefSeq Summary

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of...

Pfam Domains

WD40aa 8–46UCSCWD domain, G-beta repeat

WD40aa 52–87UCSCWD domain, G-beta repeat

WD40aa 93–130UCSCWD domain, G-beta repeat

WD40aa 134–172UCSCWD domain, G-beta repeat

WD40aa 176–214UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

POC1 centriolar protein B

HGNC Previous Symbol

WDR51B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_172240.3

p.K48delFs

c.144delC

Surrounding Variants

1 paper

NM_172240.3

p.K48fs

c.142_143fs

1 paper

NM_172240.3

p.L44_N46del0

c.130_138del9

1 paper

NM_172240.3

p.A51delFs

c.151delC

1 paper

NM_172240.3

p.W45*

c.135G>A

1 paper

NM_172240.3

p.W45*

c.134G>A

1 paper

NM_172240.3

p.M43V

c.127A>G

1 paper

NM_172240.3

p.R55T

c.164G>C

1 paper

NM_172240.3

p.T40I

c.119C>T

1 paper

NM_172240.3

p.W38*

c.114G>A

1 paper

NM_172240.3

p.W38*

c.113G>A

2 papers

NM_172240.3

p.K60R

c.179A>G

1 paper

NM_172240.3

p.D61H

c.181G>C