Varaico: Literature-Extracted Genetic Variants

Gene:TMCC2
Variant:p.S157P

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
Selected Variant
1 paper
NM_014858.4
p.S157P
c.469T>C
Surrounding Variants
2 papers
NM_014858.4
p.S160S
c.480C>T
1 paper
NM_014858.4
p.K162*
c.484A>T
1 paper
NM_014858.4
p.R150R
c.450C>T
1 paper
NM_014858.4
p.A165T
c.493G>A
1 paper
NM_014858.4
p.S171G
c.511A>G
1 paper
NM_014858.4
p.S175S
c.525C>T
1 paper
NM_014858.4
p.R131H
c.392G>A
1 paper
NM_014858.4
p.R131C
c.391C>T
1 paper
NM_014858.4
p.P190fs
c.568_569fs
1 paper
NM_014858.4
p.G193G
c.579C>T
1 paper
NM_014858.4
p.S115S
c.345C>T
1 paper
NM_014858.4
p.R217H
c.650G>A
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