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.S447*

c.1340C>A

Surrounding Variants

1 paper

NM_172240.3

p.S447*

c.1340C>G

1 paper

NM_172240.3

p.V446delFs

c.1336_1337delAC

1 paper

NM_172240.3

p.V446fs

c.1336_1337fs

2 papers

NM_172240.3

p.T445fs

c.1333_1334fs

5 papers

NM_172240.3

p.R452*

c.1354C>T

4 papers

NM_172240.3

p.R452Q

c.1355G>A

1 paper

NM_172240.3

p.L464P

c.1391T>C

1 paper

NM_172240.3

p.S478I

c.1433G>T

1 paper

NM_172240.3

p.Q444_T445Splc

c.1332+5G>A

1 paper

NM_172240.3

p.V441_Q444del4

c.1321_1331del12

2 papers

NM_172240.3

p.Q444insFs

c.1331_1332dupAG

1 paper

NM_172240.3

p.Q438insFs

c.1312dupC