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

3 papers

NM_052820.4

p.E447Q

c.1339G>C

Surrounding Variants

1 paper

NM_052820.4

p.D470H

c.1408G>C

1 paper

NM_052820.4

p.A422D

c.1265C>A

1 paper

NM_052820.4

p.P476insFs

c.1427dupC

1 paper

NM_052820.4

p.P476fs

c.1426_1427fs

1 paper

NM_052820.4

p.P406L

c.1217C>T

1 paper

NM_052820.4

p.R390*

c.1168C>T

1 paper

NM_052820.4

p.E482_L483Splc

c.1447-1G>A

1 paper

NM_052820.4

p.Q485*

c.1453C>T

1 paper

NM_052820.4

p.R498W

c.1492C>T

1 paper

NM_052820.4

p.E512K

c.1534G>A

1 paper

NM_052820.4

p.N517fs

c.1549_1550fs

1 paper

NM_052820.4

p.Y316C

c.947A>G