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

1–12 of 44 variants

3 papers

NM_052820.4

p.Q67_T68Splc

c.201+4A>G

3 papers

NM_052820.4

p.E447Q

c.1339G>C

1 paper

NM_052820.4

p.H4D

c.10C>G

1 paper

NM_052820.4

p.P19T

c.55C>A

1 paper

NM_052820.4

p.G58E

c.173G>A

1 paper

NM_052820.4

p.I63T

c.188T>C

1 paper

NM_052820.4

p.P64T

c.190C>A

1 paper

NM_052820.4

p.Q67_T68Splc

c.201+1G>A

1 paper

NM_052820.4

p.T68A

c.202A>G

1 paper

NM_052820.4

p.T68insFs

c.203_204insC

1 paper

NM_052820.4

p.D94H

c.280G>C

1 paper

NM_052820.4

p.L128L

c.384C>T