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

1 paper

NM_007074.4

p.C345Y

c.1034G>A

Surrounding Variants

1 paper

NM_007074.4

p.E346K

c.1036G>A

1 paper

NM_007074.4

p.R343Q

c.1028G>A

1 paper

NM_007074.4

p.V352insFs

c.1054dupG

1 paper

NM_007074.4

p.R354R

c.1062A>T

1 paper

NM_007074.4

p.R336Splc

c.1007+1G>A

1 paper

NM_007074.4

p.V329A

c.986T>C

1 paper

NM_007074.4

p.F359fs

c.1075_1076fs

4 papers

NM_007074.4

p.F359delFs

c.1077delC

1 paper

NM_007074.4

p.Q360fs

c.1078_1079fs

1 paper

NM_007074.4

p.Q360R

c.1079A>G

1 paper

NM_007074.4

p.R325H

c.974G>A

2 papers

NM_007074.4

p.Q316*

c.946C>T