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

1 paper

NM_172240.3

p.N218K

c.654C>G

Surrounding Variants

1 paper

NM_172240.3

p.V217A

c.650T>C

1 paper

NM_172240.3

p.H223L

c.668A>T

1 paper

NM_172240.3

p.W213*

c.639G>A

1 paper

NM_172240.3

p.W213*

c.638G>A

3 papers

NM_172240.3

p.Y224*

c.672C>G

3 papers

NM_172240.3

p.Y224*

c.672C>A

1 paper

NM_172240.3

p.Q225*

c.673C>T

1 paper

NM_172240.3

p.Q225E

c.673C>G

2 papers

NM_172240.3

p.V226Splc

c.676+1G>A

1 paper

NM_172240.3

p.K211E

c.631A>G

1 paper

NM_172240.3

p.V210L

c.628G>T

1 paper

NM_172240.3

p.V210L

c.628G>C