Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.A1934A

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.A1934A
c.5802C>G
Surrounding Variants
1 paper
NM_001080414.4
p.P1944P
c.5832C>T
2 papers
NM_001080414.4
p.R1946C
c.5836C>T
1 paper
NM_001080414.4
p.S1947_G1948delFs
c.5841_5842delCT
2 papers
NM_001080414.4
p.E1949fs
c.5845_5846fs
1 paper
NM_001080414.4
p.E1949G
c.5846A>G
1 paper
NM_001080414.4
p.A1918_G1919del2
c.5752_5756del6
1 paper
NM_001080414.4
p.V1950M
c.5848G>A
1 paper
NM_001080414.4
p.A1918_G1919del1
c.5753_5755delCAG
1 paper
NM_001080414.4
p.V1956I
c.5866G>A
1 paper
NM_001080414.4
p.P1969L
c.5906C>T
2 papers
NM_001080414.4
p.P1898R
c.5693C>G
3 papers
NM_001080414.4
p.S1974R
c.5920A>C
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