Varaico: Literature-Extracted Genetic Variants

CORO1A

201 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

DUF1899aa 4–69UCSCDomain of unknown function (DUF1899)

WD40aa 72–110UCSCWD domain, G-beta repeat

WD40aa 121–160UCSCWD domain, G-beta repeat

WD40aa 168–204UCSCWD domain, G-beta repeat

WD40_4aa 345–387UCSCType of WD40 repeat

Trimer_CCaa 410–461UCSCTrimerisation motif

Gene Aliases

HGNC Name

coronin 1A

HGNC Alias Symbols

HCORO1; p57; coronin-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_007074.4

p.P83delFs

c.248_249delCT

Surrounding Variants

2 papers

NM_007074.4

p.P83fs

c.247_248fs

1 paper

NM_007074.4

p.P83del1

c.247_248delCCT

1 paper

NM_007074.4

p.I87F

c.259A>T

1 paper

NM_007074.4

p.A88T

c.262G>A

1 paper

NM_007074.4

p.T76M

c.227C>T

1 paper

NM_007074.4

p.D94N

c.280G>A

1 paper

NM_007074.4

p.G100G

c.300C>A

1 paper

NM_007074.4

p.S101delFs

c.303delC

1 paper

NM_007074.4

p.T105T

c.315A>T

1 paper

NM_007074.4

p.E110K

c.328G>A

1 paper

NM_007074.4

p.L116M

c.346C>A

1 paper

NM_007074.4

p.V125I

c.373G>A