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

1–12 of 63 variants

4 papers

NM_020441.3

p.E123Q

c.367G>C

2 papers

NM_020441.3

p.S391fs

c.1171_1172fs

2 papers

NM_020441.3

p.V411M

c.1231G>A

2 papers

NM_020441.3

p.S415_R416insFs

c.1245_1246insGC

1 paper

NM_020441.3

p.S2A

c.4T>G

1 paper

NM_020441.3

p.S2F

c.5C>T

1 paper

NM_020441.3

p.F3L

c.7T>C

1 paper

NM_020441.3

p.F3L

c.9C>G

1 paper

NM_020441.3

p.F3L

c.9C>A

1 paper

NM_020441.3

p.K5K

c.15A>G

1 paper

NM_020441.3

p.P19L

c.56C>T

1 paper

NM_020441.3

p.E27Q

c.79G>C