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

10 papers

NM_007074.4

p.V134M

c.400G>A

Surrounding Variants

2 papers

NM_007074.4

p.R133S

c.397C>A

1 paper

NM_007074.4

p.R133C

c.397C>T

1 paper

NM_007074.4

p.H130R

c.389A>G

1 paper

NM_007074.4

p.A138V

c.413C>T

1 paper

NM_007074.4

p.A138A

c.414C>A

1 paper

NM_007074.4

p.W139G

c.415T>G

1 paper

NM_007074.4

p.H140N

c.418C>A

1 paper

NM_007074.4

p.V125I

c.373G>A

1 paper

NM_007074.4

p.A143P

c.427G>C

1 paper

NM_007074.4

p.Q144R

c.431A>G

1 paper

NM_007074.4

p.L148F

c.442C>T

1 paper

NM_007074.4

p.L116M

c.346C>A