Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.K1279N

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.K1279N
c.3837A>C
Surrounding Variants
1 paper
NM_001365480.1
p.K1279N
c.3837A>T
1 paper
NM_001365480.1
p.E1199*
c.3595G>T
1 paper
NM_001365480.1
p.K1189R
c.3566A>G
1 paper
NM_001365480.1
p.K1185R
c.3554A>G
3 papers
NM_001365480.1
p.R1146Q
c.3437G>A
1 paper
NM_001365480.1
p.N1055I
c.3164A>T
1 paper
NM_001365480.1
p.E1321Q
c.3961G>C
1 paper
NM_001365480.1
p.I1331T
c.3992T>C
1 paper
NM_001365480.1
p.M1335I
c.4005G>T
1 paper
NM_001365480.1
p.M1335I
c.4005G>C
1 paper
NM_001365480.1
p.M1335I
c.4005G>A
1 paper
NM_001365480.1
p.D1350E
c.4050T>A
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