Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.E909_D910Splc

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
2 papers
NM_001365480.1
p.E909_D910Splc
c.2727+1G>A
Surrounding Variants
2 papers
NM_001365480.1
p.R908H
c.2723G>A
1 paper
NM_001365480.1
p.R908C
c.2722C>T
1 paper
NM_001365480.1
p.L893I
c.2677C>A
1 paper
NM_001365480.1
p.E887*
c.2659G>T
1 paper
NM_001365480.1
p.E872K
c.2614G>A
1 paper
NM_001365480.1
p.E865G
c.2594A>G
1 paper
NM_001365480.1
p.D830Y
c.2488G>T
1 paper
NM_001365480.1
p.Q812*
c.2434C>T
1 paper
NM_001365480.1
p.N799I
c.2396A>T
1 paper
NM_001365480.1
p.E783Q
c.2347G>C
1 paper
NM_001365480.1
p.N774K
c.2322C>G
1 paper
NM_001365480.1
p.N774K
c.2322C>A
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