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

1–12 of 116 variants

17 papers

NM_172240.3

p.R106P

c.317G>C

8 papers

NM_172240.3

p.T270_G271Splc

c.810+1G>T

5 papers

NM_172240.3

p.T119I

c.356C>T

5 papers

NM_172240.3

p.E344_I345Splc

c.1033-327T>A

5 papers

NM_172240.3

p.R452*

c.1354C>T

4 papers

NM_172240.3

p.Q67del1

c.199_200delCTG

4 papers

NM_172240.3

p.R106Q

c.317G>A

4 papers

NM_172240.3

p.T199_I201del3

c.595_602del9

4 papers

NM_172240.3

p.R452Q

c.1355G>A

3 papers

NM_172240.3

p.A34Splc

c.101-3T>G

3 papers

NM_172240.3

p.K48delFs

c.144delC

3 papers

NM_172240.3

p.L140insFs

c.419dupT