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

8 papers

NM_015426.5

p.Q350delFs

c.1048delG

Surrounding Variants

1 paper

NM_015426.5

p.Q350insFs

c.1048dupC

5 papers

NM_015426.5

p.Q350fs

c.1048_1049fs

1 paper

NM_015426.5

p.T362M

c.1085C>T

4 papers

NM_015426.5

p.G337fs

c.1009_1010fs

4 papers

NM_015426.5

p.P336insFs

c.1007dupC

1 paper

NM_001161581.2

p.P295delFs

c.884delG

1 paper

NM_015426.5

p.P328fs

c.982_983fs

1 paper

NM_015426.5

p.T374I

c.1121C>T

2 papers

NM_001161581.2

p.T336insFs

c.1007dupC