Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.L263F

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.L263F
c.787C>T
Surrounding Variants
1 paper
NM_001365480.1
p.R262W
c.784A>T
1 paper
NM_001365480.1
p.I260M
c.780A>G
1 paper
NM_001365480.1
p.L267L
c.799T>C
1 paper
NM_001365480.1
p.A254_D255del1
c.762_764delTCT
3 papers
NM_001365480.1
p.A254P
c.760G>C
1 paper
NM_001365480.1
p.S250W
c.749C>G
1 paper
NM_001365480.1
p.L249V
c.745C>G
1 paper
NM_001365480.1
p.K241Q
c.721A>C
1 paper
NM_001365480.1
p.M240T
c.719T>C
1 paper
NM_001365480.1
p.S237A
c.709T>G
1 paper
NM_001365480.1
p.S233A
c.697T>G
1 paper
NM_001365480.1
p.S228A
c.682T>G
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