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

3 papers

NM_007074.4

p.V397_P398insFs

c.1191_1192insC

Surrounding Variants

3 papers

NM_007074.4

p.V397I

c.1189G>A

3 papers

NM_007074.4

p.S401fs

c.1201_1202fs

1 paper

NM_007074.4

p.S401fs

c.1201_1202fs

1 paper

NM_007074.4

p.L404P

c.1211T>C

1 paper

NM_007074.4

p.L388L

c.1164C>G

2 papers

NM_007074.4

p.R383W

c.1147C>T

1 paper

NM_007074.4

p.G381R

c.1141G>A

1 paper

NM_007074.4

p.G381R

c.1141G>C

1 paper

NM_007074.4

p.R416K

c.1247G>A

2 papers

NM_007074.4

p.A418T

c.1252G>A

1 paper

NM_007074.4

p.E420*

c.1258G>T

1 paper

NM_007074.4

p.P425P

c.1275C>T