Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.E980*

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
Selected Variant
1 paper
NM_001365480.1
p.E980*
c.2938G>T
Surrounding Variants
1 paper
NM_001365480.1
p.L983L
c.2949A>G
1 paper
NM_001365480.1
p.I971T
c.2912T>C
1 paper
NM_001365480.1
p.D950N
c.2848G>A
1 paper
NM_001365480.1
p.K939Q
c.2815A>C
1 paper
NM_001365480.1
p.D924A
c.2771A>C
1 paper
NM_001365480.1
p.Q919R
c.2756A>G
1 paper
NM_001365480.1
p.N1003fs
c.3007_3008fs
1 paper
NM_001365480.1
p.N1003insFs
c.3008_3009insA
2 papers
NM_001365480.1
p.L1007insFs
c.3020_3021insC
1 paper
NM_001365480.1
p.Q1011Q
c.3033A>G
2 papers
NM_001365480.1
p.E909_D910Splc
c.2727+1G>A
2 papers
NM_001365480.1
p.R908H
c.2723G>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."