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

1–12 of 88 variants

20 papers

NM_015426.5

p.R81*

c.241C>T

15 papers

NM_015426.5

p.L171P

c.512T>C

10 papers

NM_015426.5

p.T120A

c.358A>G

9 papers

NM_015426.5

p.S80F

c.239C>T

8 papers

NM_015426.5

p.R217W

c.649C>T

8 papers

NM_015426.5

p.Q350delFs

c.1048delG

7 papers

NM_015426.5

p.V22F

c.64G>T

7 papers

NM_015426.5

p.S164N

c.491G>A

7 papers

NM_015426.5

p.W172*

c.515G>A

7 papers

NM_015426.5

p.W172*

c.516G>A

6 papers

NM_015426.5

p.V85delFs

c.254delA

6 papers

NM_015426.5

p.V295delFs

c.884delA