Varaico: Literature-Extracted Genetic Variants

Gene:TMCC2

TMCC2

54 papers

Pfam Domains

Tmemb_cc2aa 285–695UCSCPredicted transmembrane and coiled-coil 2 protein

Gene Aliases

HGNC Name

transmembrane and coiled-coil domain family 2

HGNC Alias Symbols

HUCEP11; FLJ38497

Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
2 papers
NM_014858.4
p.S160S
c.480C>T
1 paper
NM_014858.4
p.R3K
c.8G>A
1 paper
NM_014858.4
p.L9Q
c.26T>A
1 paper
NM_014858.4
p.L9P
c.26T>C
1 paper
NM_014858.4
p.T39M
c.116C>T
1 paper
NM_014858.4
p.P47fs
c.139_140fs
1 paper
NM_014858.4
p.P47R
c.140C>G
1 paper
NM_014858.4
p.D50H
c.148G>C
1 paper
NM_014858.4
p.K70N
c.210A>T
1 paper
NM_014858.4
p.Q72Q
c.216G>A
1 paper
NM_014858.4
p.S75S
c.225A>G
1 paper
NM_014858.4
p.G81D
c.242G>A
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