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

2 papers

NM_007074.4

p.F239L

c.717C>A

Surrounding Variants

1 paper

NM_007074.4

p.R241P

c.722G>C

1 paper

NM_007074.4

p.G238C

c.712G>T

1 paper

NM_007074.4

p.S243T

c.728G>C

3 papers

NM_007074.4

p.L235V

c.703C>G

1 paper

NM_007074.4

p.R245G

c.733C>G

1 paper

NM_007074.4

p.K233R

c.698A>G

1 paper

NM_007074.4

p.V247G

c.740T>G

1 paper

NM_007074.4

p.L249Q

c.746T>A

1 paper

NM_007074.4

p.W250*

c.749G>A

1 paper

NM_007074.4

p.V229L

c.685G>C

1 paper

NM_007074.4

p.V229L

c.685G>T

1 paper

NM_007074.4

p.T252P

c.754A>C