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.R393W

c.1177C>T

Surrounding Variants

2 papers

NM_020441.3

p.S391fs

c.1171_1172fs

1 paper

NM_020441.3

p.R383Q

c.1148G>A

1 paper

NM_020441.3

p.R408L

c.1223G>T

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.R416fs

c.1246_1247fs

1 paper

NM_020441.3

p.R416fs

c.1246_1247fs

1 paper

NM_020441.3

p.G369R

c.1105G>C

1 paper

NM_020441.3

p.G369R

c.1105G>A

1 paper

NM_020441.3

p.A418T

c.1252G>A

1 paper

NM_020441.3

p.A418V

c.1253C>T

1 paper

NM_020441.3

p.P365P

c.1095C>T