Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.M390I

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.M390I
c.1170G>A
Surrounding Variants
1 paper
NM_005436.5
p.G389R
c.1165G>A
1 paper
NM_005436.5
p.A388T
c.1162G>A
4 papers
NM_005436.5
p.N394Y
c.1180A>T
1 paper
NM_005436.5
p.G397G
c.1191T>C
1 paper
NM_005436.5
p.P382L
c.1145C>T
1 paper
NM_005436.5
p.H399R
c.1196A>G
1 paper
NM_005436.5
p.P381delFs
c.1141delG
1 paper
NM_005436.5
p.V400V
c.1200G>A
1 paper
NM_005436.5
p.T380T
c.1140G>A
2 papers
NM_005436.5
p.Q401*
c.1201C>T
1 paper
NM_005436.5
p.T380M
c.1139C>T
1 paper
NM_005436.5
p.H375_G378delFs
c.1123_1133del11
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