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

1–12 of 136 variants

10 papers

NM_007074.4

p.V134M

c.400G>A

9 papers

NM_007074.4

p.E26K

c.76G>A

8 papers

NM_007074.4

p.P83delFs

c.248_249delCT

4 papers

NM_007074.4

p.F359delFs

c.1077delC

3 papers

NM_007074.4

p.L235V

c.703C>G

3 papers

NM_007074.4

p.P277R

c.830C>G

3 papers

NM_007074.4

p.V397I

c.1189G>A

3 papers

NM_007074.4

p.V397_P398insFs

c.1191_1192insC

3 papers

NM_007074.4

p.S401fs

c.1201_1202fs

2 papers

NM_007074.4

p.M1insFs

c.2dupT

2 papers

NM_007074.4

p.R12L

c.35G>T

2 papers

NM_007074.4

p.K20_E26insFs

c.59_77dup19