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_001161581.2

p.D85Fs

c.253_254delinsCFs

Surrounding Variants

4 papers

NM_015426.5

p.D124N

c.370G>A

10 papers

NM_015426.5

p.T120A

c.358A>G

1 paper

NM_015426.5

p.A131T

c.391G>A

1 paper

NM_015426.5

p.T132P

c.394A>C

1 paper

NM_015426.5

p.R134H

c.401G>A

1 paper

NM_015426.5

p.H133_R134del2

c.397_401del6

1 paper

NM_015426.5

p.K136fs

c.406_407fs

1 paper

NM_015426.5

p.G94V

c.281G>T

1 paper

NM_015426.5

p.K93I

c.278A>T

2 papers

NM_015426.5

p.K93fs

c.277_278fs

1 paper

NM_015426.5

p.V92G

c.275T>G

3 papers

NM_015426.5

p.V92Splc

c.275+2T>G