Varaico: Literature-Extracted Genetic Variants

CORO1B

57 papers

RefSeq Summary

Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008].

Pfam Domains

DUF1899aa 5–70UCSCDomain of unknown function (DUF1899)

WD40aa 73–111UCSCWD domain, G-beta repeat

WD40aa 122–161UCSCWD domain, G-beta repeat

WD40aa 167–204UCSCWD domain, G-beta repeat

WD40_4aa 345–387UCSCType of WD40 repeat

Gene Aliases

HGNC Name

coronin 1B

HGNC Alias Symbol

coronin-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020441.3

p.F191V

c.571T>G

Surrounding Variants

1 paper

NM_020441.3

p.F191S

c.572T>C

1 paper

NM_020441.3

p.A212_E213Splc

c.636+5G>A

1 paper

NM_020441.3

p.A165V

c.494C>T

1 paper

NM_020441.3

p.W160S

c.479G>C

1 paper

NM_020441.3

p.E215K

c.643G>A

1 paper

NM_020441.3

p.K216E

c.646A>G

1 paper

NM_020441.3

p.A217G

c.650C>G

1 paper

NM_020441.3

p.E219K

c.655G>A

1 paper

NM_020441.3

p.P223S

c.667C>T

1 paper

NM_020441.3

p.R225G

c.673C>G

1 paper

NM_020441.3

p.A230V

c.689C>T

1 paper

NM_020441.3

p.D231H

c.691G>C