Varaico: Literature-Extracted Genetic Variants

Gene:CCDC102B
Variant:p.K147*

CCDC102B

46 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 102B

HGNC Previous Symbols

C18orf14; ACY1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024781.3
p.K147*
c.439A>T
Surrounding Variants
1 paper
NM_024781.3
p.Q146E
c.436C>G
1 paper
NM_024781.3
p.L143_E151del0
c.429_452del24
1 paper
NM_024781.3
p.K153N
c.459A>C
1 paper
NM_024781.3
p.K153N
c.459A>T
1 paper
NM_024781.3
p.Q175H
c.525A>C
1 paper
NM_024781.3
p.Q175H
c.525A>T
1 paper
NM_024781.3
p.W102*
c.306G>A
1 paper
NM_024781.3
p.W102*
c.305G>A
1 paper
NM_024781.3
p.Q192*
c.574C>T
2 papers
NM_024781.3
p.N101S
c.302A>G
1 paper
NM_024781.3
p.N201fs
c.601_602fs
1 paper
NM_024781.3
p.K202*
c.604A>T
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