Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A

CCDC88A

185 papers

RefSeq Summary

This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and play...

Pfam Domains

HOOK_Naa 13–162UCSCHOOK domain

Gene Aliases

HGNC Name

coiled-coil and HOOK domain protein 88A

HGNC Previous Symbol

KIAA1212

Papers
RefSeq ID
Protein change
DNA change
1–12 of 167 variants
5 papers
NM_001365480.1
p.L772*
c.2315T>G
5 papers
NM_001365480.1
p.L772*
c.2315T>A
5 papers
NM_001365480.1
p.T771delFs
c.2313delA
4 papers
NM_001365480.1
p.W431*
c.1292G>A
4 papers
NM_001365480.1
p.W431*
c.1293G>A
3 papers
NM_001365480.1
p.A254P
c.760G>C
3 papers
NM_001365480.1
p.G760C
c.2278G>T
3 papers
NM_001365480.1
p.R1146Q
c.3437G>A
2 papers
NM_001365480.1
p.L263F
c.787C>T
2 papers
NM_001365480.1
p.N523K
c.1569T>G
2 papers
NM_001365480.1
p.N523K
c.1569T>A
2 papers
NM_001365480.1
p.T599fs
c.1795_1796fs
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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."