Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.W431*

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
4 papers
NM_001365480.1
p.W431*
c.1292G>A
Surrounding Variants
4 papers
NM_001365480.1
p.W431*
c.1293G>A
1 paper
NM_001365480.1
p.D424A
c.1271A>C
1 paper
NM_001365480.1
p.E410G
c.1229A>G
1 paper
NM_001365480.1
p.D399G
c.1196A>G
1 paper
NM_001365480.1
p.R398*
c.1192C>T
1 paper
NM_001365480.1
p.M396_E397Splc
c.1189-19A>G
1 paper
NM_001365480.1
p.R371H
c.1112G>A
1 paper
NM_001365480.1
p.R345*
c.1033A>T
1 paper
NM_001365480.1
p.A344S
c.1030G>T
1 paper
NM_001365480.1
p.D323E
c.969T>G
1 paper
NM_001365480.1
p.D323E
c.969T>A
1 paper
NM_001365480.1
p.R321K
c.962G>A
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