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

2 papers

NM_015426.5

p.S72L

c.215C>T

Surrounding Variants

1 paper

NM_015426.5

p.G79S

c.235G>A

9 papers

NM_015426.5

p.S80F

c.239C>T

1 paper

NM_015426.5

p.V64I

c.190G>A

20 papers

NM_015426.5

p.R81*

c.241C>T

1 paper

NM_015426.5

p.R81Q

c.242G>A

1 paper

NM_015426.5

p.K83fs

c.247_248fs

1 paper

NM_015426.5

p.K83delFs

c.247_248delTT

3 papers

NM_015426.5

p.V85L

c.253G>C

1 paper

NM_015426.5

p.V85fs

c.253_254fs

1 paper

NM_015426.5

p.V85Fs

c.253_254delinsCFs

6 papers

NM_015426.5

p.V85delFs

c.254delA

1 paper

NM_015426.5

p.R86H

c.257G>A