Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.T462S

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.T462S
c.1385C>G
Surrounding Variants
1 paper
NM_005436.5
p.T462S
c.1384A>T
4 papers
NM_005436.5
p.T462A
c.1384A>G
1 paper
NM_005436.5
p.Q460_P461insFs
c.1380_1381insC
1 paper
NM_005436.5
p.S464L
c.1391C>T
1 paper
NM_005436.5
p.S464W
c.1391C>G
1 paper
NM_005436.5
p.S464*
c.1391C>A
1 paper
NM_005436.5
p.S459S
c.1377G>A
1 paper
NM_005436.5
p.S459P
c.1375T>C
1 paper
NM_005436.5
p.T458T
c.1374C>G
2 papers
NM_005436.5
p.S467L
c.1400C>T
1 paper
NM_005436.5
p.A468T
c.1402G>A
1 paper
NM_005436.5
p.S455*
c.1364C>A
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