Varaico: Literature-Extracted Genetic Variants

POC1A

76 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 9–47UCSCWD domain, G-beta repeat

WD40aa 51–89UCSCWD domain, G-beta repeat

WD40aa 94–131UCSCWD domain, G-beta repeat

WD40aa 135–173UCSCWD domain, G-beta repeat

WD40aa 177–215UCSCWD domain, G-beta repeat

WD40aa 219–257UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

POC1 centriolar protein A

HGNC Previous Symbol

WDR51A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015426.5

p.S300G

c.898A>G

Surrounding Variants

6 papers

NM_015426.5

p.V295delFs

c.884delA

5 papers

NM_015426.5

p.V295fs

c.883_884fs

1 paper

NM_015426.5

p.A321T

c.961G>A

4 papers

NM_015426.5

p.L327_P328Splc

c.981+1G>A

4 papers

NM_015426.5

p.E284insFs

c.850_851insG

4 papers

NM_015426.5

p.E284fs

c.850_851fs

1 paper

NM_015426.5

p.T282M

c.845C>T