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.M309T

c.926T>C

Surrounding Variants

1 paper

NM_007074.4

p.L307L

c.921C>G

1 paper

NM_007074.4

p.H305D

c.913C>G

2 papers

NM_007074.4

p.Q316*

c.946C>T

1 paper

NM_007074.4

p.P302fs

c.904_905fs

1 paper

NM_007074.4

p.A301S

c.901G>T

1 paper

NM_007074.4

p.S299F

c.896C>T

1 paper

NM_007074.4

p.E296K

c.886G>A

1 paper

NM_007074.4

p.R325H

c.974G>A

1 paper

NM_007074.4

p.V329A

c.986T>C

1 paper

NM_007074.4

p.K287_G288Splc

c.862-2A>G

1 paper

NM_007074.4

p.R336Splc

c.1007+1G>A

1 paper

NM_007074.4

p.K287_G288Splc

c.861+2T>C