Varaico: Literature-Extracted Genetic Variants

Gene:CCDC71
Variant:p.A348E

CCDC71

33 papers

Pfam Domains

CCDC71Laa 8–335UCSCCoiled-coil domain-containing protein 71L
CCDC71Laa 310–461UCSCCoiled-coil domain-containing protein 71L

Gene Aliases

HGNC Name

coiled-coil domain containing 71

HGNC Alias Symbol

FLJ12800

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022903.4
p.A348E
c.1043C>A
Surrounding Variants
1 paper
NM_022903.4
p.K345R
c.1034A>G
6 papers
NM_022903.4
p.W339R
c.1015T>C
6 papers
NM_022903.4
p.W339R
c.1015T>A
6 papers
NM_022903.4
p.Q317L
c.950A>T
1 paper
NM_022903.4
p.K298R
c.893A>G
1 paper
NM_022903.4
p.R410Q
c.1229G>A
1 paper
NM_022903.4
p.L424P
c.1271T>C
1 paper
NM_022903.4
p.R269*
c.805C>T
1 paper
NM_022903.4
p.R449C
c.1345C>T
1 paper
NM_022903.4
p.V450M
c.1348G>A
1 paper
NM_022903.4
p.L239insFs
c.716_717insT
1 paper
NM_022903.4
p.L239fs
c.715_716fs
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