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.M1L

c.1A>T

Surrounding Variants

1 paper

NM_007074.4

p.M1insFs

c.1_2insG

2 papers

NM_007074.4

p.M1insFs

c.2dupT

1 paper

NM_007074.4

p.M1V

c.1A>G

1 paper

NM_007074.4

p.M1T

c.2T>C

1 paper

NM_007074.4

p.R7C

c.19C>T

2 papers

NM_007074.4

p.R12L

c.35G>T

1 paper

NM_007074.4

p.H13P

c.38A>C

1 paper

NM_007074.4

p.V14A

c.41T>C

1 paper

NM_007074.4

p.Q17*

c.49C>T

2 papers

NM_007074.4

p.K20_E26insFs

c.59_77dup19

1 paper

NM_007074.4

p.K20M

c.59A>T

9 papers

NM_007074.4

p.E26K

c.76G>A