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_015426.5

p.E7V

c.20A>T

Surrounding Variants

1 paper

NM_015426.5

p.H18H

c.54C>T

1 paper

NM_015426.5

p.R19Q

c.56G>A

7 papers

NM_015426.5

p.V22F

c.64G>T

3 papers

NM_015426.5

p.F27_I29del0

c.79_87del9

2 papers

NM_015426.5

p.A35Splc

c.103+1G>T

1 paper

NM_015426.5

p.A35Splc

c.103+2T>C

1 paper

NM_015426.5

p.A35fs

c.103_104fs

1 paper

NM_015426.5

p.S38F

c.113C>T

1 paper

NM_015426.5

p.L43F

c.127C>T

1 paper

NM_015426.5

p.V45delFs

c.133_134delAC

3 papers

NM_015426.5

p.K49*

c.145A>T

1 paper

NM_015426.5

p.P50L

c.149C>T