Varaico: Literature-Extracted Genetic Variants

CORO2A

44 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 5–70UCSCDomain of unknown function (DUF1899)

WD40aa 74–111UCSCWD domain, G-beta repeat

WD40aa 123–161UCSCWD domain, G-beta repeat

WD40aa 170–208UCSCWD domain, G-beta repeat

WD40_4aa 350–392UCSCType of WD40 repeat

Gene Aliases

HGNC Name

coronin 2A

HGNC Alias Symbol

IR10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052820.4

p.T143T

c.429G>A

Surrounding Variants

1 paper

NM_052820.4

p.T143M

c.428C>T

1 paper

NM_052820.4

p.P142S

c.424C>T

1 paper

NM_052820.4

p.R134K

c.401G>A

1 paper

NM_052820.4

p.A132V

c.395C>T

1 paper

NM_052820.4

p.L128L

c.384C>T

1 paper

NM_052820.4

p.H179Q

c.537C>G

1 paper

NM_052820.4

p.H179Q

c.537C>A

1 paper

NM_052820.4

p.Y220C

c.659A>G

1 paper

NM_052820.4

p.Y220*

c.660C>G

1 paper

NM_052820.4

p.Y220*

c.660C>A

1 paper

NM_052820.4

p.V228L

c.682G>T

1 paper

NM_052820.4

p.V228L

c.682G>C