Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.A716T

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.A716T
c.2146G>A
Surrounding Variants
1 paper
NM_001365480.1
p.L713F
c.2139G>T
1 paper
NM_001365480.1
p.L713F
c.2139G>C
1 paper
NM_001365480.1
p.V710I
c.2128G>A
1 paper
NM_001365480.1
p.L679L
c.2035T>C
2 papers
NM_001365480.1
p.R753C
c.2257C>T
1 paper
NM_001365480.1
p.T678fs
c.2032_2033fs
1 paper
NM_001365480.1
p.T678fs
c.2032_2033fs
3 papers
NM_001365480.1
p.G760C
c.2278G>T
1 paper
NM_001365480.1
p.D762Y
c.2284G>T
1 paper
NM_001365480.1
p.I763T
c.2288T>C
1 paper
NM_001365480.1
p.E667V
c.2000A>T
1 paper
NM_001365480.1
p.D762_E764del3
c.2284_2291del9
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