Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.N774K

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.N774K
c.2322C>G
Surrounding Variants
1 paper
NM_001365480.1
p.N774K
c.2322C>A
5 papers
NM_001365480.1
p.T771delFs
c.2313delA
5 papers
NM_001365480.1
p.L772*
c.2315T>G
5 papers
NM_001365480.1
p.L772*
c.2315T>A
1 paper
NM_001365480.1
p.E783Q
c.2347G>C
1 paper
NM_001365480.1
p.D762_E764del3
c.2284_2291del9
1 paper
NM_001365480.1
p.I763T
c.2288T>C
1 paper
NM_001365480.1
p.D762Y
c.2284G>T
3 papers
NM_001365480.1
p.G760C
c.2278G>T
2 papers
NM_001365480.1
p.R753C
c.2257C>T
1 paper
NM_001365480.1
p.N799I
c.2396A>T
1 paper
NM_001365480.1
p.Q812*
c.2434C>T
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