Varaico: Literature-Extracted Genetic Variants

Gene:CCDC17
Variant:p.W493*

CCDC17

57 papers

Pfam Domains

CCDC17_middle_coilaa 240–316UCSCCCDC17 middle coiled-coil domain
CCDC17_Caa 399–565UCSCCCDC17 C-terminal domain

Gene Aliases

HGNC Name

coiled-coil domain containing 17

HGNC Alias Symbol

FLJ33084

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114938.3
p.W493*
c.1478G>A
Surrounding Variants
1 paper
NM_001114938.3
p.W493*
c.1479G>A
1 paper
NM_001114938.3
p.R504P
c.1511G>C
1 paper
NM_001114938.3
p.R511C
c.1531C>T
1 paper
NM_001114938.3
p.S524G
c.1570A>G
1 paper
NM_001114938.3
p.Q533*
c.1597C>T
1 paper
NM_001114938.3
p.I557V
c.1669A>G
1 paper
NM_001114938.3
p.V461M
c.1381G>A
1 paper
NM_001114938.3
p.P436R
c.1307C>G
1 paper
NM_001114938.3
p.R418_L421delFs
c.1252_1262del11
1 paper
NM_001114938.3
p.R418fs
c.1252_1253fs
1 paper
NM_001114938.3
p.L417insFs
c.1250_1251insCC
1 paper
NM_001114938.3
p.L417V
c.1249C>G
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