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

9 papers

NM_007074.4

p.E26K

c.76G>A

Surrounding Variants

1 paper

NM_007074.4

p.V28delFs

c.83delT

1 paper

NM_007074.4

p.V30I

c.88G>A

1 paper

NM_007074.4

p.K20M

c.59A>T

1 paper

NM_007074.4

p.Q32R

c.95A>G

2 papers

NM_007074.4

p.K20_E26insFs

c.59_77dup19

1 paper

NM_007074.4

p.Q17*

c.49C>T

1 paper

NM_007074.4

p.V14A

c.41T>C

1 paper

NM_007074.4

p.H13P

c.38A>C

2 papers

NM_007074.4

p.R12L

c.35G>T

1 paper

NM_007074.4

p.A41delFs

c.122delC

1 paper

NM_007074.4

p.A41A

c.123T>C

1 paper

NM_007074.4

p.P44P

c.132T>C