Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.K1892E

CCDC88C

226 papers

RefSeq Summary

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein enco...

Pfam Domains

HOOK_Naa 13–161UCSCHOOK domain

Gene Aliases

HGNC Name

coiled-coil and HOOK domain protein 88C

HGNC Previous Symbol

KIAA1509

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080414.4
p.K1892E
c.5674A>G
Surrounding Variants
1 paper
NM_001080414.4
p.P1891Q
c.5672C>A
2 papers
NM_001080414.4
p.P1898R
c.5693C>G
1 paper
NM_001080414.4
p.D1882H
c.5644G>C
3 papers
NM_001080414.4
p.R1879Q
c.5636G>A
1 paper
NM_001080414.4
p.S1878I
c.5633G>T
1 paper
NM_001080414.4
p.A1918_G1919del1
c.5753_5755delCAG
1 paper
NM_001080414.4
p.A1918_G1919del2
c.5752_5756del6
1 paper
NM_001080414.4
p.S1852fs
c.5554_5555fs
2 papers
NM_001080414.4
p.P1851insFs
c.5553dupC
1 paper
NM_001080414.4
p.A1934A
c.5802C>G
1 paper
NM_001080414.4
p.P1944P
c.5832C>T
2 papers
NM_001080414.4
p.R1946C
c.5836C>T
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