Varaico: Literature-Extracted Genetic Variants

CORO7

62 papers

RefSeq Summary

This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde ...

Pfam Domains

DUF1899aa 2–65UCSCDomain of unknown function (DUF1899)

WD40aa 67–106UCSCWD domain, G-beta repeat

WD40aa 158–196UCSCWD domain, G-beta repeat

WD40_4aa 338–380UCSCType of WD40 repeat

DUF1899aa 468–532UCSCDomain of unknown function (DUF1899)

WD40aa 537–573UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

coronin 7

HGNC Alias Symbols

FLJ22021; POD1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

4 papers

NM_024535.5

p.R193Q

c.578G>A

2 papers

NM_024535.5

p.Q61K

c.181C>A

2 papers

NM_024535.5

p.Q61R

c.182A>G

2 papers

NM_024535.5

p.R106*

c.316C>T

2 papers

NM_024535.5

p.G147G

c.441C>T

1 paper

NM_024535.5

p.A31T

c.91G>A

1 paper

NM_024535.5

p.I45F

c.133A>T

1 paper

NM_024535.5

p.Q61L

c.182A>T

1 paper

NM_024535.5

p.Q61H

c.183A>T

1 paper

NM_024535.5

p.Q61H

c.183A>C

1 paper

NM_024535.5

p.R69H

c.206G>A

1 paper

NM_024535.5

p.D78delFs

c.233delT