Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.I186L

CCDC6

692 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression...

Pfam Domains

DUF2046aa 42–337UCSCUncharacterized conserved protein H4 (DUF2046)

Gene Aliases

HGNC Name

coiled-coil domain containing 6

HGNC Previous Symbols

TST1; D10S170

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005436.5
p.I186L
c.556A>C
Surrounding Variants
1 paper
NM_005436.5
p.I186T
c.557T>C
1 paper
NM_005436.5
p.I186I
c.558T>A
1 paper
NM_005436.5
p.D184N
c.550G>A
1 paper
NM_005436.5
p.K188E
c.562A>G
2 papers
NM_005436.5
p.N183S
c.548A>G
1 paper
NM_005436.5
p.L190P
c.569T>C
1 paper
NM_005436.5
p.K180N
c.540A>T
1 paper
NM_005436.5
p.K180N
c.540A>C
1 paper
NM_005436.5
p.K180I
c.539A>T
1 paper
NM_005436.5
p.L192F
c.576A>T
1 paper
NM_005436.5
p.L192F
c.576A>C
1 paper
NM_005436.5
p.Q194R
c.581A>G
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