Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.P1470S

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.P1470S
c.4408C>T
Surrounding Variants
1 paper
NM_001365480.1
p.M1482I
c.4446G>A
1 paper
NM_001365480.1
p.T1559A
c.4675A>G
1 paper
NM_001365480.1
p.S1587G
c.4759A>G
1 paper
NM_001365480.1
p.A1609Splc
c.4825+1G>A
1 paper
NM_001365480.1
p.S1461I
c.4382G>T
1 paper
NM_001365480.1
p.T1421R
c.4262C>G
2 papers
NM_001365480.1
p.D1409G
c.4226A>G
1 paper
NM_001365480.1
p.W1395C
c.4185G>T
1 paper
NM_001365480.1
p.W1395C
c.4185G>C
1 paper
NM_001135597.2
p.S1386_P1387insFs
c.4158_4159dupTC
1 paper
NM_001365480.1
p.Q1644*
c.4930C>T
1 paper
NM_001365480.1
p.Q1684R
c.5051A>G
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