Varaico: Literature-Extracted Genetic Variants

Gene:CORO7
Variant:p.R238C

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
Selected Variant
1 paper
NM_024535.5
p.R238C
c.712C>T
Surrounding Variants
1 paper
NM_024535.5
p.S206N
c.617G>A
4 papers
NM_024535.5
p.R193Q
c.578G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."