Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.K647Q

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.K647Q
c.1939A>C
Surrounding Variants
1 paper
NM_001365480.1
p.K647T
c.1940A>C
1 paper
NM_001365480.1
p.I648L
c.1942A>T
1 paper
NM_001365480.1
p.I648L
c.1942A>C
1 paper
NM_001365480.1
p.I648delFs
c.1942delT
1 paper
NM_001365480.1
p.E667V
c.2000A>T
1 paper
NM_001365480.1
p.R626*
c.1876C>T
1 paper
NM_001365480.1
p.T678fs
c.2032_2033fs
1 paper
NM_001365480.1
p.T678fs
c.2032_2033fs
1 paper
NM_001365480.1
p.L679L
c.2035T>C
1 paper
NM_001365480.1
p.R611R
c.1833A>G
1 paper
NM_001365480.1
p.E607A
c.1820A>C
1 paper
NM_001365480.1
p.L603I
c.1807C>A
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