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.V441_Q444del4

c.1321_1331del12

Surrounding Variants

2 papers

NM_172240.3

p.Q444insFs

c.1331_1332dupAG

1 paper

NM_172240.3

p.Q444_T445Splc

c.1332+5G>A

1 paper

NM_172240.3

p.Q438insFs

c.1312dupC

1 paper

NM_172240.3

p.P425A

c.1273C>G

1 paper

NM_172240.3

p.S420T

c.1259G>C

1 paper

NM_172240.3

p.C401Y

c.1202G>A

1 paper

NM_172240.3

p.C388_Y390del3

c.1162_1169del9

1 paper

NM_172240.3

p.C388Y

c.1163G>A

2 papers

NM_172240.3

p.T445fs

c.1333_1334fs

1 paper

NM_172240.3

p.V446fs

c.1336_1337fs

1 paper

NM_172240.3

p.V446delFs

c.1336_1337delAC

1 paper

NM_172240.3

p.S447*

c.1340C>G