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.Y132Fs

c.395delinsGGFs

Surrounding Variants

1 paper

NM_172240.3

p.S130del1

c.388_390delGCT

1 paper

NM_172240.3

p.S130_Y138del9

c.388_413del27

1 paper

NM_172240.3

p.S139F

c.416C>T

1 paper

NM_172240.3

p.L140fs

c.418_419fs

3 papers

NM_172240.3

p.L140insFs

c.419dupT

1 paper

NM_172240.3

p.Y141insFs

c.421dupT

1 paper

NM_172240.3

p.A120V

c.359C>T

5 papers

NM_172240.3

p.T119I

c.356C>T

1 paper

NM_172240.3

p.V147_R148delFs

c.441_444del4

2 papers

NM_172240.3

p.D113H

c.337G>C

1 paper

NM_172240.3

p.V108A

c.323T>C

1 paper

NM_172240.3

p.S107I

c.320G>T