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.H254N

c.760C>A

Surrounding Variants

1 paper

NM_007074.4

p.K253E

c.757A>G

1 paper

NM_007074.4

p.P258delFs

c.774delG

1 paper

NM_007074.4

p.L261L

c.781C>T

2 papers

NM_007074.4

p.Q262*

c.784C>T

1 paper

NM_007074.4

p.S268delFs

c.803_804delGC

1 paper

NM_007074.4

p.S268N

c.803G>A

3 papers

NM_007074.4

p.P277R

c.830C>G

1 paper

NM_007074.4

p.D278V

c.833A>T

1 paper

NM_007074.4

p.T279S

c.835A>T

1 paper

NM_007074.4

p.T279S

c.836C>G

1 paper

NM_007074.4

p.K287_G288Splc

c.861+2T>C

1 paper

NM_007074.4

p.K287_G288Splc

c.862-2A>G