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

15 papers

NM_015426.5

p.L171P

c.512T>C

Surrounding Variants

7 papers

NM_015426.5

p.W172*

c.515G>A

7 papers

NM_015426.5

p.W172*

c.516G>A

1 paper

NM_015426.5

p.K174fs

c.520_521fs

1 paper

NM_015426.5

p.K174delFs

c.520_521delTT

1 paper

NM_015426.5

p.K167N

c.501G>T

1 paper

NM_015426.5

p.K167N

c.501G>C

7 papers

NM_015426.5

p.S164N

c.491G>A

4 papers

NM_015426.5

p.S198fs

c.592_593fs

1 paper

NM_015426.5

p.S198N

c.593G>A

4 papers

NM_015426.5

p.S198_I202delFs

c.593_605del13

1 paper

NM_015426.5

p.D215fs

c.643_644fs

1 paper

NM_015426.5

p.W214insFs

c.642dupG