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

3 papers

NM_172240.3

p.H237R

c.710A>G

Surrounding Variants

1 paper

NM_172240.3

p.S239S

c.717G>A

1 paper

NM_172240.3

p.G240C

c.718G>T

1 paper

NM_172240.3

p.N232_N241delFs

c.694_722del29

1 paper

NM_172240.3

p.T245I

c.734C>T

1 paper

NM_172240.3

p.A246V

c.737C>T

1 paper

NM_172240.3

p.H227R

c.680A>G

2 papers

NM_172240.3

p.V226fs

c.676_677fs

2 papers

NM_172240.3

p.V226Splc

c.677-2A>G

1 paper

NM_172240.3

p.L262F

c.784C>T

1 paper

NM_172240.3

p.T270M

c.809C>T

8 papers

NM_172240.3

p.T270_G271Splc

c.810+1G>T

2 papers

NM_172240.3

p.T270_G271Splc

c.810+2T>G