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

2 papers

NM_172240.3

p.P360delFs

c.1079_1080delAG

Surrounding Variants

2 papers

NM_172240.3

p.P360fs

c.1078_1079fs

1 paper

NM_172240.3

p.M362T

c.1085T>C

1 paper

NM_172240.3

p.M362I

c.1086G>T

1 paper

NM_172240.3

p.M362I

c.1086G>C

1 paper

NM_172240.3

p.M362I

c.1086G>A

1 paper

NM_172240.3

p.V351L

c.1051G>C

1 paper

NM_172240.3

p.I345fs

c.1033_1034fs

5 papers

NM_172240.3

p.E344_I345Splc

c.1033-327T>A

2 papers

NM_172240.3

p.R331delFs

c.991delT

2 papers

NM_172240.3

p.R331fs

c.991_992fs

3 papers

NM_172240.3

p.Y329*

c.987C>G

3 papers

NM_172240.3

p.Y329*

c.987C>A